184:, the onset of this disease is usually noticed in childhood, but often not diagnosed until the third or fourth decade of life, frequently due to misdiagnosis and dismissal of symptoms. The median age of symptom onset is 3 years, with the median diagnostic delay being 29 years. Misdiagnosis is overwhelmingly common, with approximately 90% of patients being misdiagnosed, and approximately 62% receiving multiple misdiagnoses before a correct diagnosis. The prolonged diagnostic delay, misdiagnosis or multiple misdiagnoses, or being given inappropriate exercise advice (such as ignore pain or avoid exercise) severely impacts quality of life (QoL), physically and mentally.
239:
results in greater exercise capacity compared to classic phenotype McArdle individuals, particularly for sustained aerobic activity, but the capacity was still below that of unaffected individuals. In this mild phenotype, since their early teens, they did experience cramping and premature muscle fatigue during sudden vigorous exercise and prolonged isometric exercise; however, due to their less diminished capacity for aerobic activity, they were able to keep up with their peers in sports and everyday activities. As of 2009, there have been 3 reported cases of non-related individuals, a reported
51:
939:, which inhibits the breakdown of glycogen into glucose and prevents the formation of lactate; as well as produces an electronically silent muscle contracture. Knowing what occurs to muscle poisoned by iodoacetate, helped McArdle speculate that a glycogenolytic block might be occurring when he first described the disease. McArdle accurately concluded that the patient had a disorder of glycogen breakdown that specifically affected skeletal muscle. The associated enzyme deficiency was discovered in 1959 by
2797:
456:
565:. Ordinarily, the removal of 1,4 glycosyl residues by myophosphorylase leads to the formation of glucose-1-phosphate during glycogen breakdown and the polar, phosphorylated glucose cannot leave the cell membrane and so is marked for intracellular catabolism. In McArdle's disease, deficiency of myophosphorylase leads to accumulation of intramuscular glycogen and a lack of glucose-1-phosphate for cellular fuel.
327:(a condition in which muscle cells breakdown, sending their contents into the bloodstream). In 2020, the largest study to-date of 269 GSD-V patients, 39.4% reported no previous episodes of myoglobinuria and 6.8% had normal CK (including those with fixed muscle weakness); so an absence of myoglobinuria and normal CK should not rule out the possibility of the disease. Between 33-51.4% develop fixed
335:
found in GSD-V individuals at a higher rate than in the general population, including (but not limited to): hypertension (17%), endocrine diseases (15.7%), musculoskeletal/rheumatic disease (12.9%), hyperuricemia/gout (11.6%), gastrointestinal diseases (11.2%), neurological disease (10%), respiratory disease (9.5%), and coronary artery disease (8.3%). They may have a
702:, which are moderately increased in 90% of patients. In some, the level is increased by multitudes - a person without GSD-V will have a CK between 60 and 400IU/L, while a person with the syndrome may have a level of 5,000 IU/L at rest, and may increase to 35,000 IU/L or more with muscle exertion. This can help distinguish McArdle's syndrome from
423:"Be wary of pushing on when you feel pain start. This pain is a result of damaging muscles, and repeated damage will cause problems in the long term. But also this is counterproductiveâit will stop you from getting into second wind. By pressing on despite the pain, you start your protein metabolism which then effectively blocks your glucose and
372:, with the myokinase reaction occurring after phosphocreatine (creatine phosphate) has been depleted. In McArdle disease individuals, their muscle cells produce far more AMP than non-affected individuals as the reduced glycolytic flux from impaired glycogenolysis results in a chronically low ATP reservoir during exercise. The muscle cells need
361:, which is characterized by the individual's better tolerance for aerobic exercise such as walking and cycling after approximately 10 minutes. This is attributed to the combination of increased blood flow and the ability of the body to find alternative sources of energy, like fatty acids, proteins, and increased blood glucose uptake.
899:. The frequent ingestion of sucrose (e.g. sugary drinks), in order to avoid premature muscle fatigue and cramping, is also problematic in that it can lead to obesity as insulin will also stimulate triglyceride synthesis (develop body fat), and obesity-related ill health (e.g. type II diabetes and heart disease).
891:
high-carbohydrate meal or drink causes transient hyperglycaemia, with the exercising muscle cells utilizing the high glucose in the blood for the glycolytic pathway. However, the ingestion of a high-carbohydrate meal or drink is problematic as a frequent form of treatment since it will increase the release of
873:
activated to break down glycogen (glycogenolysis) by high levels of AMP, and as the AMP-dependent activity was preserved, the individuals of this family had normal muscle glycogen concentrations as well as lacked exercise intolerance (which are prominent distinguishing features from McArdle disease).
334:
Younger people may display unusual symptoms, such as difficulty in chewing, swallowing or utilizing normal oral motor functions. Idiopathic leg pains were common in children, usually occurring at night, often presumed to be "growing pains" and not investigated further. A number of comorbidities were
238:
mutation. It can also be caused by recessive homozygous intronic mutations. These intronic mutations result in a milder phenotype compared to the classic phenotype of McArdle disease. There is residual myophosphorylase activity, between 1-2% residual activity compared to unaffected individuals. This
205:
PYGM mutation (p. Lys42Profs*48) resulting in severe upper and lower limb atrophy, with the possibility of ptosis (drooping eyelids) and camptocormia (stooped posture). As of 2017, there have been two reported cases of this specific homozygous mutation and phenotype. In 1980, a woman also had a
931:
levels failed to increase upon ischemic exercise. (The ischemic exercise consists of the patient squeezing a hand dynamometer at maximal strength for a specific period of time, usually a minute, with a blood pressure cuff, which is placed on the upper arm and set at 250 mmHg, blocking blood flow to
302:
Heart rate during exercise is a key indicator as, unlike the symptoms of muscle fatigue and cramping, it is a medical sign (meaning that it is observable and measurable by a third party rather than felt subjectively by the patient). In regularly active individuals with McArdle disease, they may not
218:") and respiratory failure within weeks of birth (perinatal asphyxia). Post mortem biopsy showed deficiency of myophosphorylase and abnormal glycogen accumulation in skeletal muscle tissue. This phenotype may also include premature birth and joint contractures. Two reported cases, in 1978 and 1989.
910:
A ketogenic diet has demonstrated beneficial for McArdle disease (GSD-V) as ketones readily convert to acetyl CoA for oxidative phosphorylation, whereas free fatty acids take a few minutes to convert into acetyl CoA. Ketones are a part of fat metabolism, the ketones can act as the main fuel before
890:
Oral sucrose treatment (for example a sports drink with 75 grams of sucrose in 660 ml.) taken 30 minutes prior to exercise has been shown to help improve exercise tolerance, including a lower heart rate and lower perceived level of exertion compared with placebo. This is because the ingestion of a
864:
Allelic to McArdle disease (GSD-V) is a recently discovered disease that has a pathogenic autosomal dominant mutation in exon 16 of the PYGM gene c.1915G>C (p.Asp639His). Discovered in 2020, it affected 13 members of a family over four generations and has yet to be assigned a GSD number. Unlike
734:," which requires a treadmill (no incline), heart rate monitor, stop watch, pain scale, and that the patient has rested for 30 minutes prior to the test to ensure that "second wind" has stopped (that is, that increased ATP production primarily from free fatty acids has returned to resting levels).
710:
for use as an energy source. Also, serum electrolytes and endocrine studies (such as thyroid function, parathyroid function and growth hormone levels) will also be completed. Urine studies are required only if rhabdomyolysis is suspected. Urine volume, urine sediment and myoglobin levels would be
584:
activated by elevated AMP within the cell, and allosterically inactivated by elevated ATP and/or glucose-6-phosphate. Myophosphorylase-a is active, unless allosterically inactivated by elevated glucose within the cell. In this way, myophosphorylase-a is the more active of the two forms as it will
545:
During exercise, a deficiency of this enzyme ultimately leads to rapid depletion of phosphocreatine, a decrease in available ATP, and an exaggerated rise of ADP and AMP. McArdle disease individuals also have increased maximum fat oxidation compared to unaffected individuals. During exercise, in
508:
The myophosphorylase structure consists of 842 amino acids. Its molecular weight of the unprocessed precursor is 97 kDa. The three-dimensional structure has been determined for this protein. The interactions of several amino acids in myophosphorylase's structure are known. Ser-14 is modified by
467:
manner. If both parents are carriers (not having the disease, but each parent having one copy of the mutated allele), then each child of the couple will have a 25% chance of being affected (having McArdle disease), a 50% chance of being a carrier, and a 25% chance of being unaffected (neither a
882:
Supervised exercise programs have been shown in small studies to improve exercise capacity by several measures: lowering heart rate, lowering serum creatine kinase (CK), increasing the exercise intensity threshold before symptoms of muscle fatigue and cramping are experienced, and the skeletal
2307:
Patient 1 had hypertrophy of calf, deltoid and bicep muscles before resistance training commenced, while living a sedentary lifestyle with an office job, walking short distances was difficult as was everyday tasks like vacuuming and cutting the grass. After four years of resistance training,
303:
feel the usual symptoms of muscle fatigue and cramping until they increase their speed to very brisk walking, jogging or cycling; however, they will still show an inappropriate rapid heart rate response to exercise, with a declining heart rate once second wind has been achieved.
88:
Poor physical or mental health due to prolonged delay in diagnosis, misdiagnosis, or having been given inappropriate exercise advice. Rare complications include rhabdomyolysis with myoglobinuria requiring hospitalization, transient muscle contracture, and compartment
874:
The only symptom was adult-onset (40+ years of age) fixed muscle weakness, initially of the proximal muscles of the legs, followed by proximal arms, then distal leg muscles. Muscle biopsy also showed accumulation of the intermediate filament desmin in the myofibres.
404:(adenylosuccinate) are converted in a circular fashion; the byproducts are fumarate (which goes on to produce ATP via oxidative phosphorylation), ammonia (from the conversion of AMP into IMP), and uric acid (from excess AMP). GSD-V patients may experience myogenic
3365:
Echaniz-Laguna, Andoni; Lornage, XaviĂšre; LaforĂȘt, Pascal; Orngreen, Mette C.; Edelweiss, Evelina; Brochier, Guy; Bui, Mai T.; Silva-Rojas, Roberto; Birck, Catherine; Lannes, BĂ©atrice; Romero, Norma B.; Vissing, John; Laporte, Jocelyn; Böhm, Johann (August 2020).
640:). Some findings suggest a nonischemic test could be performed with similar results. The nonischemic version of this test would involve not cutting off the blood flow to the exercising arm. Findings consistent with McArdle's disease would include a failure of
906:
showed a significant improvement of muscle problems compared to placebo in a small clinical study, while other studies have shown minimal subjective benefit. High dosage treatment of creatine has been shown to worsen symptoms of myalgia (muscle pain).
475:(the muscle-type of the glycogen phosphorylase gene), is located on chromosome 11q13. According to the most recent publications, 95 different mutations have been reported. The forms of the mutations may vary between ethnic groups. For example, the
744:). Before exercise, a minority of GSD-V patients show myopathic results (5/25 patients); whereas after 5 minutes of high-intensity isometric exercise, the majority showed myopathic results (22/25 patients). The myopathic results were a decrease in
4125:
4110:
959:. The cattle were asymptomatic at rest, but when forced to exercise, would become noticeably fatigued and recumbent (having to lie down) for approximately 10 minutes before being able to resume exercise (the second wind phenomenon).
380:
by actively transporting calcium ions into the sarcoplasmic reticulum before muscle contraction, and it is used during muscle contraction for the release of myosin heads in the sliding filament model during the cross-bridge cycle.
307:"In McArdle's, our heart rate tends to increase in what is called an 'inappropriate' response. That is, after the start of exercise it increases much more quickly than would be expected in someone unaffected by McArdle's."
516:, a cofactor required by myophosphorylase. By similarity, other sites have been estimated: Tyr-76 binds AMP, Cys-109 and Cys-143 are involved in subunit association, and Tyr-156 may be involved in allosteric control.
2200:
RodrĂguez-GĂłmez, Irene; Santalla, Alfredo; DĂez-Bermejo, Jorge; MunguĂa-Izquierdo, Diego; Alegre, Luis M.; Nogales-Gadea, Gisela; Arenas, Joaquin; MartĂn, Miguel Ăngel; LucĂa, Alejandro; Ara, Ignacio (January 2018).
4247:
865:
McArdle disease (GSD-V), this disease does not have an overall deficiency of myophosphorylase, only a deficiency of functioning myophosphorylase-a with plenty of functioning myophosphorylase-b (similar to
78:
Exercise intolerance, inappropriate rapid heart rate response to exercise, exaggerated cardiorespiratory response to exercise, exercise-induced premature muscle fatigue and cramping, second wind phenomenon
2988:
Rodriguez-Lopez, Carlos; Santalla, Alfredo; Valenzuela, Pedro L.; Real-MartĂnez, Alberto; Villarreal-Salazar, MĂłnica; Rodriguez-Gomez, Irene; PinĂłs, TomĂ s; Ara, Ignacio; Lucia, Alejandro (February 2023).
2690:
MartĂn MA, Rubio JC, Wevers RA, Van
Engelen BG, Steenbergen GC, Van Diggelen OP, et al. (January 2004). "Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease".
911:
fatty acid catabolism takes over (second wind), during which the ketones would act as a supplementary fuel alongside the fatty acids to produce adenosine triphosphate (ATP) by oxidative phosphorylation.
3262:
Semplicini, Claudio; HĂ©zode-Arzel, Marianne; LaforĂȘt, Pascal; BĂ©hin, Anthony; Leonard-Louis, Sarah; Hogrel, Jean-Yves; Petit, François; Eymard, Bruno; Stojkovic, Tanya; Fournier, Emmanuel (2018-01-19).
494:
is known to disrupt to pyridoxal phosphate binding site. In 2006, another mutation (c.13_14delCT) was discovered which may contribute to increased symptoms in addition to the common Arg50Stop mutation.
349:
for the first few minutes as it transitions from rest to activity, as well as throughout high-intensity aerobic activity and all anaerobic activity, individuals with GSD-V experience during exercise:
342:
Besides exercise-induced premature muscle fatigue, GSD-V individuals may also have comorbidities of mental fatigue, general fatigue, reduced motivation, sleep disturbances, anxiety and depression.
2147:
RodrĂguez-GĂłmez I, Santalla A, DĂez-Bermejo J, MunguĂa-Izquierdo D, Alegre LM, Nogales-Gadea G, et al. (November 2018). "Non-osteogenic muscle hypertrophy in children with McArdle disease".
561:
is involved in the breakdown of glycogen to glucose-1-phosphate for use in muscle. The enzyme removes 1,4 glycosyl residues from outer branches of glycogen and adds inorganic phosphate to form
580:
states: active (R or relaxed) and inactive (T or tense). When either form 'a' or 'b' are in the active state, then the enzyme converts glycogen into glucose-1-phosphate. Myophosphorylase-b is
4240:
2510:
Mineo I, Kono N, Hara N, Shimizu T, Yamada Y, Kawachi M, et al. (July 1987). "Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII".
927:
described the first case in a 30-year-old man who always experienced pain and weakness after exercise. McArdle noticed this patient's cramps were electrically silent and his venous
4434:
4065:, an EU-funded consortium of medical and research institutes across Europe which is building a patient registry and raising standards of care for people with McArdle Disease.
2887:
Zange, Jochen; Grehl, Torsten; Disselhorst-Klug, Catherine; Rau, GĂŒnter; MĂŒller, Klaus; Schröder, Rolf; Tegenthoff, Martin; Malin, Jean-Pierre; Vorgerd, Matthias (June 2003).
2308:
pre-existing hypertrophy in deltoid muscles increased further and muscle bulk was gained in additional muscle groups (quadriceps, gluteus, pectoralis, and trapezius muscles).
419:. Over-reliance on protein metabolism can be best avoided by not depleting their ATP reservoir, such as by not pushing through the pain and by not going too fast, too soon.
3685:
LĂžkken N, Hansen KK, Storgaard JH, Ărngreen MC, Quinlivan R, Vissing J (July 2020). "Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study".
2108:
Quinlivan, Ros; Buckley, John; Twist, Anthony; Ball, Sarah; Duno, Morten; Vissing, John; Bruno, Claudio; Cassandrini, Denise; Roberts, Mark; Winer, John (November 2010).
4793:
4233:
4225:
4002:
Brull, Astrid; de Luna, NoemĂ; Blanco-Grau, Albert; Lucia, Alejandro; Martin, Miguel Angel; Arenas, Joaquin; MartĂ, Ramon; Andreu, Antoni L.; PinĂłs, TomĂ s (2015-06-15).
2333:
Slipsager, Anna; Andersen, Linda Kahr; Voermans, Nicol
Cornelia; Lucia, Alejandro; Karazi, Walaa; Santalla, Alfredo; Vissing, John; LĂžkken, Nicoline (2023-11-11).
4712:
703:
1876:
Perez, M.; Martin, M. A.; Rubio, J. C.; Maté-Muñoz, J. L.; Gómez-Gallego, F.; Foster, C.; Andreu, A. L.; Arenas, J.; Lucia, A.; Fleck, S. J. (August 2006).
1042:
Nagaraju K, Lundberg IE (2013). "Inflammatory
Diseases of Muscle and Other Myopathies". In Firestein GS, Budd RC, Gabriel SE, McInnes IB, O'Dell JR (eds.).
546:
affected individuals, there is no significant rise in lactic acid production compared to resting levels (it may even fall below resting levels), and plasma
4728:
1658:"Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease"
271:(particularly for anaerobic activity and high-intensity aerobic activity, which may be described as inability to keep up with peers or reduced stamina);
711:
ascertained. If rhabdomyolysis is suspected, serum myoglobin, creatine kinase, lactate dehydrogenase, electrolytes and renal function will be checked.
115:
Genetic testing (preferred), muscle biopsy. Supplemental tests: blood tests, exercise stress test, 12-Minute Walk Test, non-ischemic forearm test, EMG
4329:
4260:
982:
722:) in response to exercise. Due to the rare nature of the disease, the inappropriate rapid heart rate in response to exercise may be misdiagnosed as
820:, Rippling muscle disease, Erythrocyte lactate transporter defect, a small number of muscular dystrophies, Tubular aggregate myopathy (TAM), etc.
206:
limbâgirdle phenotype with onset at age 60, histochemical staining showed myophosphorylase deficiency; however the genetic mutation was unknown.
4788:
2202:
834:
3977:
3939:
3897:
2055:
1746:"Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group"
1133:
1059:
4639:
1607:
Bruno, C.; Löfberg, M.; Tamburino, L.; JÀnkÀlÀ, H.; Hadjigeorgiou, G. M.; Andreu, A. L.; Shanske, S.; Somer, H.; DiMauro, S. (1999-06-01).
795:
748:
amplitude, which was evident immediately after exercise and, after a plateau phase of a few minutes, reached its maximum after 30 minutes.
675:, an alternative pathway for ATP production. In this pathway, adenylate kinase combines two ADP molecules to make ATP and AMP; AMP is then
1224:
Wolfe GI, Baker NS, Haller RG, Burns DK, Barohn RJ (April 2000). "McArdle's disease presenting with asymmetric, late-onset arm weakness".
962:
Artificially-induced myophosphorylase deficiency was created in mice, by altering their embryonic DNA, for use in laboratory experiments.
509:
phosphorylase kinase during activation of the enzyme. Lys-680 is involved in binding the pyridoxal phosphate, which is the active form of
4140:
851:
4684:
1237:
4528:
3568:
1276:
Scalco, Renata
Siciliani; Morrow, Jasper M.; Booth, Suzanne; Chatfield, Sherryl; Godfrey, Richard; Quinlivan, Ros (September 2017).
1077:"A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients"
427:. If you ever get into this situation, you need to stop completely for 30 minutes or more and then start the whole process again."
4578:
4546:
4534:
4483:
4689:
4679:
4489:
4477:
4404:
4324:
4066:
3730:"Patient-Reported Experiences with a Low-Carbohydrate Ketogenic Diet: An International Survey in Patients with McArdle Disease"
745:
723:
368:(adenylate kinase) reaction, which runs when the ATP reservoir is low. The myokinase reaction is one of three reactions in the
331:, typically of the trunk and upper body, with the onset of muscle weakness usually occurring later in life (40+ years of age).
153:
610:
4633:
4438:
3470:
Haller RG, Wyrick P, Taivassalo T, Vissing J (June 2006). "Aerobic conditioning: an effective therapy in McArdle's disease".
2889:"Breakdown of adenine nucleotide pool in fatiguing skeletal muscle in McArdle's disease: a noninvasive 31P-MRS and EMG study"
2319:
2047:
The McArdle
Disease Handbook: A guide to the scientific and medical research into McArdle Disease, explained in plain English
840:
3318:
Echaniz-Laguna, A.; Lornage, X.; Edelweiss, E.; LaforĂȘt, P.; Eymard, B.; Vissing, J.; Laporte, J.; Böhm, J. (October 2019).
762:
Dynamic symptoms of exercise intolerance (e.g. muscle fatigue and cramping) with or without fixed proximal muscle weakness:
4628:
2384:"From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease"
866:
656:
181:
4762:
1656:
Iyengar, S.; Kalinsky, H.; Weiss, S.; Korostishevsky, M.; Sadeh, M.; Zhao, Y.; Kidd, K. K.; Bonne-Tamir, B. (May 1997).
801:
609:
will note the absence of myophosphorylase in muscle fibers. In some cases, abnormal accumulation of glycogen stained by
339:
of muscle hypertrophy (24%), particularly of the legs, and may have lower bone mineral content and density in the legs.
4798:
471:
Two autosomal recessive forms of this disease occur, childhood-onset and adult-onset. The gene for myophosphorylase,
3093:
Hagberg, J. M.; King, D. S.; Rogers, M. A.; Montain, S. J.; Jilka, S. M.; Kohrt, W. M.; Heller, S. L. (April 1990).
50:
4644:
4256:
573:
4704:
4568:
789:
336:
3320:"O.5 A new glycogen storage disorder caused by a dominant mutation in the glycogen myophosphorylase gene (PYGM)"
2590:"Spontaneous Compartment Syndrome in a Patient with McArdle Disease: A Case Report and Review of the Literature"
2423:
Pearson CM, Rimer DG, Mommaerts WF (April 1961). "A metabolic myopathy due to absence of muscle phosphorylase".
1939:
1803:
627:, determining if McArdle's is present. This type of testing is considerably less invasive than a muscle biopsy.
4717:
4429:
4270:
4151:
971:
767:
757:
145:
4089:- Video about McArdle disease and the EUROMAC Registry of McArdle disease and other rare glycogenoses patients
1878:"Exercise capacity in a 78 year old patient with McArdle's disease: it is never too late to start exercising"
585:
continue to convert glycogen into glucose-1-phosphate even with high levels of glycogen-6-phosphate and ATP.
4350:
1075:
Rubio JC, Garcia-Consuegra I, Nogales-Gadea G, Blazquez A, Cabello A, Lucia A, et al. (February 2007).
987:
692:
393:
385:
83:
1990:"Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)"
298:
phenomenon (muscle fatigue and heart rate improves for aerobic activity after approximately 6â10 minutes).
4339:
1958:
Stanley M, Chippa V, Aeddula NR, Quintanilla
Rodriguez BS, Adigunet R (10 August 2022). "Rhabdomyolysis".
727:
620:
588:
373:
3919:
3877:
3586:"Creatine therapy in myophosphorylase deficiency (McArdle disease): a placebo-controlled crossover trial"
58:
Muscle biopsy specimen showing vacuolar myopathy: The patient had a type V glycogenosis (McArdle disease)
4749:
4649:
4399:
3046:
Hagberg, J. M.; Coyle, E. F.; Carroll, J. E.; Miller, J. M.; Martin, W. H.; Brooke, M. H. (April 1982).
2335:"Fatigue and associated factors in 172 patients with McArdle disease: An international web-based survey"
2313:
870:
857:
581:
577:
397:
1559:"Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease"
1558:
2991:"Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease"
1825:
Salazar-MartĂnez E, Santalla A, Valenzuela PL, Nogales-Gadea G, PinĂłs T, MorĂĄn M, et al. (2021).
3827:
2734:
Rubio JC, Lucia A, FernĂĄndez-Cadenas I, Cabello A, BlĂĄzquez A, GĂĄmez J, et al. (December 2006).
884:
569:
444:
411:
To avoid health complications, GSD-V patients need to get their ATP primarily from free fatty acids (
369:
260:
198:
1177:"Development of Continuum of Care for McArdle disease: A practical tool for clinicians and patients"
1014:
357:, muscle fatigue and pain, during the aforementioned activities and time frames. They may exhibit a
4305:
4300:
4129:
3876:
DiMauro, Salvatore; Akman, Hasan Orhan (2015-01-01), Rosenberg, Roger N.; Pascual, Juan M. (eds.),
715:
562:
464:
440:
214:
There is an ultra-rare, fatal infantile-onset phenotype that results in profound muscle weakness ("
1336:"Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia"
706:(CPT-II), a lipid-based metabolic disorder which prevents fatty acids from being transported into
4552:
4500:
3918:
Valberg, Stephanie J. (2008-01-01), Kaneko, J. Jerry; Harvey, John W.; Bruss, Michael L. (eds.),
3710:
3630:"Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V)"
3495:
3403:
3347:
3300:
3217:
2716:
2625:
2570:
2545:
Mineo I, Tarui S (1995). "Myogenic hyperuricemia: what can we learn from metabolic myopathies?".
2238:
2182:
1775:
1371:
1334:
Chéraud, Chrystel; Froissart, Roseline; Lannes, Béatrice; Echaniz-Laguna, Andoni (January 2018).
1249:
1206:
920:
773:
527:
is the form of the glycogen phosphorylase found in muscle that catalyses the following reaction:
432:
416:
389:
377:
141:
137:
73:
3728:
LĂžkken N, Voermans NC, Andersen LK, Karazi W, Reason SL, Zweers H, et al. (February 2023).
895:, which inhibits the release of fatty acids and subsequently will delay the ability to get into
4004:"Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model"
3882:
Rosenberg's
Molecular and Genetic Basis of Neurological and Psychiatric Disease (Fifth Edition)
2463:"Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model"
435:
of the muscles and often severe pain (e.g. "clawed hand"). These require urgent assessment for
4607:
4191:
4162:
4041:
4023:
3973:
3935:
3893:
3855:
3796:
3761:
3702:
3667:
3649:
3607:
3564:
3536:
3487:
3452:
3395:
3387:
3339:
3292:
3284:
3209:
3122:
3114:
3075:
3067:
3028:
3010:
2970:
2916:
2908:
2845:
2757:
2708:
2672:
2664:
2617:
2609:
2562:
2527:
2492:
2440:
2405:
2364:
2356:
2300:
2282:
2230:
2222:
2174:
2129:
2085:
2051:
2021:
1965:
1915:
1897:
1858:
1767:
1695:
1677:
1638:
1630:
1586:
1578:
1512:
1504:
1465:
1457:
1418:
1410:
1363:
1355:
1307:
1299:
1241:
1198:
1129:
1098:
1055:
828:
719:
490:
The exact method of protein disruption has been elucidated in certain mutations. For example,
350:
278:
164:
110:
63:
3421:
Pérez M, Moran M, Cardona C, Maté-Muñoz JL, Rubio JC, Andreu AL, et al. (January 2007).
1013:
Bissonnette B, Luginbuehl I, Engelhardt T (2019). "Glycogen
Storage Disease Type V (GSD V)".
940:
813:
disease resulting in malnutrition of micronutrients essential for muscle glycogen metabolism;
4344:
4333:
4031:
4015:
3983:
3965:
3927:
3885:
3845:
3835:
3788:
3751:
3741:
3694:
3657:
3641:
3597:
3526:
3479:
3442:
3434:
3379:
3331:
3276:
3199:
3106:
3059:
3018:
3002:
2960:
2950:
2900:
2835:
2827:
2747:
2700:
2656:
2601:
2554:
2519:
2482:
2474:
2432:
2395:
2346:
2290:
2272:
2214:
2164:
2156:
2121:
2011:
2001:
1988:
Scalco RS, Lucia A, Santalla A, Martinuzzi A, Vavla M, Reni G, et al. (November 2020).
1905:
1889:
1848:
1838:
1757:
1685:
1669:
1620:
1570:
1496:
1449:
1402:
1347:
1289:
1233:
1188:
1121:
1088:
1047:
976:
952:
737:
672:
572:, form 'b' is not phosphorylated. Form 'a' is de-phosphorylated into form 'b' by the enzyme
558:
524:
424:
412:
401:
149:
3960:
Valentine, Beth A. (2017-01-01), Zachary, James F. (ed.), "Chapter 15 - Skeletal Muscle1",
2382:
Scalco RS, Chatfield S, Godfrey R, Pattni J, Ellerton C, Beggs A, et al. (July 2014).
951:
Naturally-occurring myophosphorylase deficiency (GSD-V; McArdle disease) has been found in
4671:
4070:
2801:
2796:
2461:
Brull A, de Luna N, Blanco-Grau A, Lucia A, Martin MA, Arenas J, et al. (June 2015).
699:
660:
455:
328:
320:
2645:"Recurrent Compartment Syndrome Leading to the Diagnosis of McArdle Disease: Case Report"
2643:
Mull, Aaron B.; Wagner, Janelle I.; Mycktayn, Terence M.; Kells, Amy F. (December 2015).
1116:
Valberg SJ (2008). "Skeletal Muscle
Function". In Kaneko JJ, Harvey JW, Bruss MO (eds.).
779:
Endocrine myopathy that affects carbohydrate metabolism secondary to the primary disease;
3831:
3367:
3095:"Exercise and recovery ventilatory and VO2 responses of patients with McArdle's disease"
3023:
2990:
1154:
740:(EMG) may show normal or myopathic results (short duration, polyphasic, small amplitude
4511:
4495:
4378:
4315:
4264:
4036:
4003:
3988:
3969:
3931:
3889:
3756:
3729:
3662:
3629:
3447:
3422:
2965:
2938:
2840:
2815:
2487:
2462:
2295:
2260:
2016:
1989:
1910:
1877:
1853:
1826:
1690:
1657:
1175:
Reason SL, Voermans N, Lucia A, Vissing J, Quinlivan R, Bhai S, Wakelin A (July 2023).
1125:
1051:
817:
616:
436:
346:
324:
268:
4134:
3850:
3815:
3584:
Vorgerd M, Grehl T, Jager M, Muller K, Freitag G, Patzold T, et al. (July 2000).
2203:"A New Condition in McArdle Disease: Poor Bone HealthâBenefits of an Active Lifestyle"
1625:
1608:
4782:
4744:
4722:
4584:
3714:
3515:"The effect of oral sucrose on exercise tolerance in patients with McArdle's disease"
3407:
3351:
2704:
2436:
1779:
1375:
1210:
935:
Notably, this is the same phenomenon that occurs when muscle is poisoned in vitro by
924:
810:
680:
668:
606:
405:
316:
244:
160:
3499:
3221:
2720:
2589:
2574:
2071:
2069:
2067:
1253:
4469:
4419:
4291:
3645:
3304:
2629:
2242:
2186:
707:
664:
645:
408:(exercise-induced accelerated breakdown of purine nucleotides in skeletal muscle).
227:
4202:
3186:
Kazemi-Esfarjani P, Skomorowska E, Jensen TD, Haller RG, Vissing J (August 2002).
388:, which also runs when the ATP reservoir in muscle cells is low, and is a part of
4156:
3814:
Mommaerts WF, Illingworth B, Pearson CM, Guillory RJ, Seraydarian K (June 1959).
3110:
3052:
Journal of
Applied Physiology: Respiratory, Environmental and Exercise Physiology
2218:
2045:
1149:
105:
Pathogenic autosomal recessive mutations in PYGM gene coding for myophosphorylase
4208:
4186:
3792:
3063:
2752:
2735:
2523:
1959:
1557:
Vissing, John; Duno, Morten; Schwartz, Marianne; Haller, Ronald G. (June 2009).
992:
936:
928:
896:
731:
676:
641:
358:
295:
215:
201:
phenotype that presents very late in life (70+ years of age) due to a recessive
3820:
Proceedings of the National Academy of Sciences of the United States of America
2660:
2006:
1744:
Lucia A, Martinuzzi A, Nogales-Gadea G, Quinlivan R, Reason S (December 2021).
1609:"Molecular characterization of McArdle's disease in two large Finnish families"
1500:
17:
4756:
4616:
4213:
4167:
4119:
4086:
4080:
3816:"A Functional Disorder of Muscle Associated with the Absence of Phosphorylase"
3602:
3585:
3335:
2400:
2383:
2351:
2334:
2160:
1843:
1762:
1745:
1294:
1277:
1193:
1176:
602:
510:
202:
4027:
3653:
3438:
3391:
3343:
3288:
3118:
3071:
3014:
2912:
2668:
2644:
2613:
2605:
2360:
2286:
2226:
2125:
2077:
1901:
1893:
1681:
1634:
1582:
1508:
1461:
1414:
1359:
1303:
1278:"Misdiagnosis is an important factor for diagnostic delay in McArdle disease"
4415:
4197:
3319:
3264:
2888:
2109:
1335:
995:(increased ATP production primarily by fatty acids after glycogen depletion)
631:
547:
535:
365:
354:
289:
285:
44:
McArdle disease; muscle glycogen phosphorylase (myophosphorylase) deficiency
4045:
3859:
3765:
3706:
3671:
3611:
3540:
3491:
3456:
3399:
3296:
3213:
3094:
3047:
3032:
2974:
2955:
2920:
2849:
2761:
2712:
2676:
2621:
2496:
2444:
2409:
2368:
2304:
2277:
2234:
2178:
2133:
2089:
2025:
1969:
1919:
1862:
1771:
1642:
1590:
1574:
1484:
1453:
1390:
1367:
1311:
1245:
1202:
1102:
663:
in McArdle disease. Lactate may be used as a fuel source once converted to
655:
Serum lactate may fail to rise in part because of increased uptake via the
634:
can also perform an ischemic forearm exercise test as described below (see
443:, which left untreated can be life-threatening. In a small number of cases
3840:
3800:
3235:
3126:
3079:
2831:
2566:
2558:
2531:
1699:
1516:
1437:
1422:
1406:
4564:
4460:
4389:
3628:
Quinlivan, Rosaline; Martinuzzi, Andrea; Schoser, Benedikt (2014-11-12).
3531:
3514:
3265:"The role of electrodiagnosis with long exercise test in mcardle disease"
3140:
2775:
1673:
1469:
1238:
10.1002/(SICI)1097-4598(200004)23:4<641::AID-MUS25>3.0.CO;2-M
903:
847:
Fixed symptom of muscle weakness, predominantly of the proximal muscles:
783:
624:
652:
levels. These findings would indicate a severe muscle glycolytic block.
4603:
4456:
4369:
4279:
4076:
International Association for Muscle Glycogen Storage Disease (IamGSD).
3746:
3698:
2169:
892:
684:
649:
248:
4102:
3483:
3383:
3280:
3204:
3187:
2904:
2588:
Triplet, Jacob J.; Goss, David A.; Taylor, Benjamin (September 2017).
1351:
1093:
1076:
4766:
4624:
4365:
4114:
4019:
3006:
2863:
2478:
956:
235:
1713:
1530:
3368:"A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation"
3162:
2261:"Resistance Exercise Training in McArdle Disease: Myth or Reality?"
568:
Myophosphorylase comes in two forms: form 'a' is phosphorylated by
152:. Its incidence is reported as one in 100,000, roughly the same as
4062:
454:
240:
4660:
4145:
2259:
Pietrusz, Aleksandra; Scalco, Renata S.; Quinlivan, Ros (2018).
741:
231:
4229:
1714:"Entry - *608455 - GLYCOGEN PHOSPHORYLASE, MUSCLE; PYGM - OMIM"
384:
Along with the myokinase reaction, AMP is also produced by the
3048:"Exercise hyperventilation in patients with McArdle's disease"
2736:"Novel mutation in the PYGM gene resulting in McArdle disease"
576:, which is activated by elevated insulin. Both forms have two
550:(become more alkaline) rather than fall (become more acidic).
483:) is most common in North America and western Europe, and the
3779:
Layzer RB (February 1985). "McArdle's disease in the 1980s".
730:). The 12 Minute Walk Test (12MWT) can be used to determine "
4581:(Pompe's disease, glucosidase deficiency, formerly GSD-IIa)
1531:"Entry - #232600 - GLYCOGEN STORAGE DISEASE V; GSD5 - OMIM"
1016:
Syndromes: Rapid Recognition and Perioperative Implications
667:. Ammonia levels may rise given ammonia is a by-product of
319:(reddish-brown urine) may be seen due to the breakdown of
226:
There is an ultra-rare mild phenotype caused by recessive
3924:
Clinical Biochemistry of Domestic Animals (Sixth Edition)
3188:"A nonischemic forearm exercise test for McArdle disease"
2800: This article incorporates text available under the
1483:
Milstein, J. M.; Herron, T. M.; Haas, J. E. (July 1989).
1438:"Fatal infantile form of muscle phosphorylase deficiency"
1391:"A new variant of late-onset myophosphorylase deficiency"
431:
Patients may present at emergency rooms with a transient
4692:(von Gierke's disease, glucose 6-phosphatase deficiency)
4537:(Hers' disease, liver glycogen phosphorylase deficiency)
619:
of the PYGM gene (which codes for the muscle isoform of
3142:
NCBI Gene ID 5837: PYGM phosphorylase, glycogen, muscle
230:
alleles in the PYGM gene, where one allele is a common
3962:
Pathologic Basis of Veterinary Disease (Sixth Edition)
1827:"The Second Wind in McArdle Patients: Fitness Matters"
758:
Glycogen_storage_disease § Differential_diagnosis
4075:
392:. In the purine nucleotide cycle, three nucleotides:
97:
Childhood-onset (median age of symptom onset 3 years)
27:
Human disease caused by deficiency of a muscle enzyme
4761:
Fatal congenital nonlysosomal cardiac glycogenosis (
4092:
2136:– via HAL Open Science (HAL ID: hal-00578727).
284:
exaggerated cardiorespiratory response to exercise (
4737:
4703:
4670:
4615:
4602:
4562:
4519:
4510:
4468:
4455:
4413:
4387:
4377:
4364:
4314:
4290:
4278:
4177:
4096:
1019:(2nd ed.). New York, NY: McGraw-Hill Education
447:has developed, requiring prompt surgical referral.
376:(adenosine triphosphate) as it provides energy for
109:
101:
93:
82:
72:
62:
40:
35:
2114:Journal of Neurology, Neurosurgery, and Psychiatry
824:Exercise-induced muscle fatigue without cramping:
247:(related) individuals and 9 reported cases in two
4636:(Tarui's disease, phosphofructokinase deficiency)
4486:(Andersen's disease, branching enzyme deficiency)
2864:"Reaction participants of glycogen phosphorylase"
1485:"Fatal infantile muscle phosphorylase deficiency"
487:mutation is most common among central Europeans.
4543:(McArdle's disease, myophosphorylase deficiency)
2076:MartĂn MA, Lucia A, Arenas J, Andreu AL (1993).
479:(Arg50Stop) mutation (previously referred to as
4531:(Cori's disease, debranching enzyme deficiency)
3926:, San Diego: Academic Press, pp. 459â484,
2207:Medicine & Science in Sports & Exercise
1964:. Treasure Island (FL): StatPearls Publishing.
718:to test for an inappropriate rapid heart rate (
234:mutation and the other allele is an ultra-rare
2816:"UniProt: the universal protein knowledgebase"
2776:"PYGM - Glycogen phosphorylase, muscle form -
1436:DiMauro, S.; Hartlage, P. L. (November 1978).
159:The disease was first reported in 1951 by Dr.
4241:
1941:101 Tips For A Good Life With McArdle Disease
671:which follows after the production of AMP by
8:
4713:Glucose-6-phosphate dehydrogenase deficiency
3884:, Boston: Academic Press, pp. 607â614,
2044:Ph.D, Kathryn Elizabeth Birch (2011-07-01).
704:carnitine palmitoyltransferase II deficiency
698:Physicians may also check resting levels of
4729:6-phosphogluconate dehydrogenase deficiency
3634:The Cochrane Database of Systematic Reviews
988:Purine nucleotide cycle§Glycogenoses (GSDs)
623:) may be done to determine the presence of
463:McArdle disease (GSD-V) is inherited in an
345:As skeletal muscle relies predominantly on
4612:
4516:
4465:
4384:
4374:
4287:
4248:
4234:
4226:
4093:
3423:"Can patients with McArdle's disease run?"
979:(muscle fatigue due to glycogen depletion)
49:
32:
4661:Mitochondrial pyruvate carrier deficiency
4035:
3987:
3849:
3839:
3755:
3745:
3661:
3601:
3530:
3446:
3203:
3022:
2964:
2954:
2939:"McArdle Disease and Exercise Physiology"
2839:
2751:
2486:
2399:
2350:
2294:
2276:
2168:
2015:
2005:
1909:
1852:
1842:
1761:
1689:
1624:
1293:
1192:
1118:Clinical Biochemistry of Domestic Animals
1092:
4794:Inborn errors of carbohydrate metabolism
4330:Inborn errors of renal tubular transport
3878:"Chapter 54 - Glycogen Storage Diseases"
983:Inborn errors of carbohydrate metabolism
3920:"Chapter 15 - Skeletal Muscle Function"
1005:
439:as in about 30% of cases this leads to
193:Late adult-onset, limbâgirdle phenotype
3871:
3869:
3687:Journal of Inherited Metabolic Disease
3623:
3621:
3513:Vissing J, Haller RG (December 2003).
3257:
3255:
2932:
2930:
2311:
2254:
2252:
2149:Journal of Inherited Metabolic Disease
2103:
2101:
2099:
2039:
2037:
2035:
1602:
1600:
1552:
1550:
605:that may aid in diagnosis of GSD-V. A
259:The most prominent symptom is that of
176:Onset of symptoms and diagnostic delay
3554:
3552:
3550:
2456:
2454:
2265:Case Reports in Neurological Medicine
2084:. University of Washington, Seattle.
1983:
1981:
1979:
1933:
1931:
1929:
1820:
1818:
1797:
1795:
1793:
1791:
1789:
1739:
1737:
1735:
1733:
1329:
1327:
1325:
1323:
1321:
923:to be recognized, when the physician
7:
4640:Triosephosphate isomerase deficiency
4587:(LAMP2 deficiency, formerly GSD-IIb)
2110:"McArdle Disease: a clinical review"
1613:Journal of the Neurological Sciences
1271:
1269:
1267:
1265:
1263:
1170:
1168:
1166:
1164:
1162:
1037:
1035:
1033:
796:Popliteal artery entrapment syndrome
776:other than glycogen storage disease;
197:There is an ultra-rare adult-onset,
4654:Phosphoglucose isomerase deficiency
4555:(PGM1-CDG, CDG1T, formerly GSD-XIV)
3781:The New England Journal of Medicine
3519:The New England Journal of Medicine
2512:The New England Journal of Medicine
1389:Kost, G. J.; Verity, M. A. (1980).
364:AMP is primarily produced from the
4685:Fructose bisphosphatase deficiency
4657:Phosphoglycerate kinase deficiency
3970:10.1016/b978-0-323-35775-3.00015-1
3932:10.1016/b978-0-12-370491-7.00015-5
3890:10.1016/b978-0-12-410529-4.00054-1
3427:British Journal of Sports Medicine
2780:(Human) - PYGM gene & protein"
1882:British Journal of Sports Medicine
1126:10.1016/b978-0-12-370491-7.00015-5
1052:10.1016/b978-1-4377-1738-9.00085-2
657:monocarboxylate transporter (MCT1)
25:
4549:(phosphorylase kinase deficiency)
2078:"Glycogen Storage Disease Type V"
1994:Orphanet Journal of Rare Diseases
1044:Kelley's Textbook of Rheumatology
835:LambertâEaton myasthenic syndrome
770:that affects muscle (muscle GSD);
589:Glycogen phosphorylase§Regulation
4579:Glycogen storage disease type II
2795:
2705:10.1046/j.1529-8817.2003.00067.x
2425:The American Journal of Medicine
312:Other symptoms and comorbidities
274:exercise-induced painful cramps;
4680:Pyruvate carboxylase deficiency
4490:Adult polyglucosan body disease
4325:Glucose-galactose malabsorption
4214:Glycogen Storage Disease Type V
3561:Quick Look Medicine: Metabolism
2826:(D1): D158âD169. January 2017.
841:Congenital myasthenic syndromes
816:Other rare myopathies, such as
724:inappropriate sinus tachycardia
714:Physicians may also conduct an
459:Autosomal recessive inheritance
210:Fatal infantile-onset phenotype
154:glycogen storage disease type I
122:Glycogen storage disease type V
36:Glycogen storage disease type V
4480:(glycogen synthase deficiency)
3964:, Mosby, pp. 908â953.e1,
3646:10.1002/14651858.CD003458.pub5
2547:Muscle & Nerve. Supplement
1888:(8): 725â726, discussion 726.
852:Limb-girdle muscular dystrophy
786:), particularly of the calves
542:+ alpha-D-glucose 1-phosphate
1:
4789:Autosomal recessive disorders
4553:Phosphoglucomutase deficiency
3099:Journal of Applied Physiology
2388:Arquivos de Neuro-Psiquiatria
1961:StatPearls [Internet]
1626:10.1016/s0022-510x(99)00091-x
1563:Brain: A Journal of Neurology
919:The deficiency was the first
869:). Myophosphorylase-b can be
613:can be seen with microscopy.
400:(inosine monophosphate), and
144:, more specifically a muscle
4763:AMP-activated protein kinase
3111:10.1152/jappl.1990.68.4.1393
2437:10.1016/0002-9343(61)90075-4
2219:10.1249/MSS.0000000000001414
902:A low dosage treatment with
802:Chronic venous insufficiency
636:
148:, caused by a deficiency of
3793:10.1056/NEJM198502073120609
3236:"IAMGSD | Training support"
3167:NLM Genetics Home Reference
3064:10.1152/jappl.1982.52.4.991
2937:Kitaoka Y (February 2014).
2753:10.1001/archneur.63.12.1782
2649:The Journal of Hand Surgery
2524:10.1056/NEJM198707093170203
1805:Living With McArdle Disease
1662:Journal of Medical Genetics
681:inosine monophosphate (IMP)
538:= ((1â4)-alpha-D-glucosyl)
396:(adenosine monophosphate),
370:phosphagen system (ATP-PCr)
4815:
4725:(Transketolase deficiency)
4645:Pyruvate kinase deficiency
3559:Coffee, Carole J. (1999).
2661:10.1016/j.jhsa.2015.09.015
2318:: CS1 maint: postscript (
2007:10.1186/s13023-020-01562-x
1501:10.1177/088307388900400305
1489:Journal of Child Neurology
755:
659:, which is upregulated in
574:phosphoprotein phosphatase
4705:Pentose phosphate pathway
4271:glycogen storage diseases
4008:The Journal of Physiology
3603:10.1001/archneur.57.7.956
3336:10.1016/j.nmd.2019.06.023
2995:The Journal of Physiology
2467:The Journal of Physiology
2401:10.1590/0004-282x20140062
2352:10.1016/j.nmd.2023.11.003
2161:10.1007/s10545-018-0170-7
1844:10.3389/fphys.2021.744632
1763:10.1016/j.nmd.2021.10.006
1295:10.1016/j.nmd.2017.04.013
1194:10.1016/j.nmd.2023.05.006
1046:. pp. 1404â1430.e5.
790:Intermittent claudication
530:((1â4)-alpha-D-glucosyl)
337:pseudoathletic appearance
292:with inapprop. rapid HR);
255:Common signs and symptoms
57:
48:
4718:Transaldolase deficiency
3439:10.1136/bjsm.2006.030791
2693:Annals of Human Genetics
2606:10.2106/JBJS.CC.16.00196
2126:10.1136/jnnp.2009.195040
1894:10.1136/bjsm.2006.026666
972:Glycogen storage disease
768:glycogen storage disease
359:âsecond windâ phenomenon
146:glycogen storage disease
4503:(glycogenin deficiency)
4351:Fanconi-Bickel syndrome
4261:carbohydrate metabolism
3324:Neuromuscular Disorders
2339:Neuromuscular Disorders
1831:Frontiers in Physiology
1750:Neuromuscular Disorders
1282:Neuromuscular Disorders
1181:Neuromuscular Disorders
885:aerobically conditioned
782:Inadequate blood flow (
693:purine nucleotide cycle
468:carrier nor diseased).
386:purine nucleotide cycle
4340:Fructose malabsorption
4081:Walking With McArdle's
3563:. Hayes Barton Press.
2956:10.3390/biology3010157
2820:Nucleic Acids Research
1454:10.1212/wnl.28.11.1124
752:Differential diagnosis
728:diagnosis of exclusion
621:glycogen phosphorylase
460:
429:
309:
68:Neuromuscular medicine
4750:Primary hyperoxaluria
4650:Aldolase A deficiency
4400:Essential fructosuria
4267:metabolism disorders
3841:10.1073/pnas.45.6.791
3590:Archives of Neurology
2740:Archives of Neurology
2559:10.1002/mus.880181416
1407:10.1002/mus.880030302
941:W. F. H. M. Mommaerts
932:the exercising arm.)
858:Inflammatory myopathy
458:
421:
305:
281:response to exercise;
188:Ultra-rare phenotypes
4405:Fructose intolerance
4301:Congenital alactasia
4087:EUROMAC Introduction
3532:10.1056/NEJMoa031836
2278:10.1155/2018/9658251
1674:10.1136/jmg.34.5.391
1575:10.1093/brain/awp065
1120:. pp. 459â484.
716:exercise stress test
611:periodic acid-Schiff
570:phosphorylase kinase
445:compartment syndrome
261:exercise intolerance
142:metabolic myopathies
4306:Sucrose intolerance
3832:1959PNAS...45..791M
3472:Annals of Neurology
3372:Annals of Neurology
3192:Annals of Neurology
2832:10.1093/nar/gkw1099
2594:JBJS Case Connector
1569:(Pt 6): 1545â1552.
563:glucose-1-phosphate
465:autosomal recessive
441:acute kidney injury
4799:Muscular disorders
4353:(GLUT2 deficiency)
4347:(GLUT1 deficiency)
4178:External resources
4069:2021-04-22 at the
3747:10.3390/nu15040843
3699:10.1002/jimd.12223
3269:Muscle & Nerve
2893:Muscle & Nerve
1938:Wakelin A (2013).
1802:Wakelin A (2017).
1395:Muscle & Nerve
1340:Muscle & Nerve
1226:Muscle & Nerve
921:metabolic myopathy
774:Metabolic myopathy
617:Genetic sequencing
461:
417:protein metabolism
390:protein metabolism
378:muscle contraction
171:Signs and symptoms
138:metabolic disorder
4776:
4775:
4699:
4698:
4663:(MPC1 deficiency)
4598:
4597:
4594:
4593:
4451:
4450:
4447:
4446:
4360:
4359:
4223:
4222:
4014:(12): 2693â2706.
3979:978-0-323-35775-3
3941:978-0-12-370491-7
3899:978-0-12-410529-4
3525:(26): 2503â2509.
3484:10.1002/ana.20881
3384:10.1002/ana.25771
3281:10.1002/mus.26074
3205:10.1002/ana.10263
2905:10.1002/mus.10377
2746:(12): 1782â1784.
2655:(12): 2377â2379.
2473:(12): 2693â2706.
2120:(11): 1182â1188.
2057:978-0-9569658-1-3
1756:(12): 1296â1310.
1448:(11): 1124â1129.
1352:10.1002/mus.25588
1135:978-0-12-370491-7
1094:10.1002/humu.9474
1061:978-1-4377-1738-9
883:muscles becoming
829:Myasthenia gravis
720:sinus tachycardia
351:sinus tachycardia
134:McArdle's disease
132:), also known as
119:
118:
111:Diagnostic method
30:Medical condition
16:(Redirected from
4806:
4613:
4572:
4522:
4517:
4466:
4423:
4393:
4385:
4375:
4334:Renal glycosuria
4288:
4250:
4243:
4236:
4227:
4094:
4050:
4049:
4039:
4020:10.1113/JP270085
3999:
3993:
3992:
3991:
3957:
3951:
3950:
3949:
3948:
3915:
3909:
3908:
3907:
3906:
3873:
3864:
3863:
3853:
3843:
3811:
3805:
3804:
3776:
3770:
3769:
3759:
3749:
3725:
3719:
3718:
3682:
3676:
3675:
3665:
3640:(11): CD003458.
3625:
3616:
3615:
3605:
3581:
3575:
3574:
3556:
3545:
3544:
3534:
3510:
3504:
3503:
3467:
3461:
3460:
3450:
3418:
3412:
3411:
3362:
3356:
3355:
3315:
3309:
3308:
3259:
3250:
3249:
3247:
3246:
3232:
3226:
3225:
3207:
3183:
3177:
3176:
3175:
3173:
3159:
3153:
3152:
3151:
3149:
3137:
3131:
3130:
3105:(4): 1393â1398.
3090:
3084:
3083:
3043:
3037:
3036:
3026:
3007:10.1113/JP283743
2985:
2979:
2978:
2968:
2958:
2934:
2925:
2924:
2884:
2878:
2877:
2875:
2874:
2860:
2854:
2853:
2843:
2812:
2806:
2799:
2793:
2791:
2790:
2772:
2766:
2765:
2755:
2731:
2725:
2724:
2687:
2681:
2680:
2640:
2634:
2633:
2585:
2579:
2578:
2542:
2536:
2535:
2507:
2501:
2500:
2490:
2479:10.1113/JP270085
2458:
2449:
2448:
2420:
2414:
2413:
2403:
2379:
2373:
2372:
2354:
2330:
2324:
2323:
2317:
2309:
2298:
2280:
2256:
2247:
2246:
2197:
2191:
2190:
2172:
2155:(6): 1037â1042.
2144:
2138:
2137:
2105:
2094:
2093:
2073:
2062:
2061:
2041:
2030:
2029:
2019:
2009:
1985:
1974:
1973:
1955:
1949:
1948:
1946:
1935:
1924:
1923:
1913:
1873:
1867:
1866:
1856:
1846:
1822:
1813:
1812:
1810:
1799:
1784:
1783:
1765:
1741:
1728:
1727:
1725:
1724:
1710:
1704:
1703:
1693:
1653:
1647:
1646:
1628:
1604:
1595:
1594:
1554:
1545:
1544:
1542:
1541:
1527:
1521:
1520:
1480:
1474:
1473:
1433:
1427:
1426:
1386:
1380:
1379:
1331:
1316:
1315:
1297:
1273:
1258:
1257:
1221:
1215:
1214:
1196:
1172:
1157:
1146:
1140:
1139:
1113:
1107:
1106:
1096:
1072:
1066:
1065:
1039:
1028:
1027:
1025:
1024:
1010:
977:Hitting the wall
953:Charolais cattle
738:Electromyography
673:adenylate kinase
648:and exaggerated
603:laboratory tests
559:Myophosphorylase
525:Myophosphorylase
499:Myophosphorylase
413:lipid metabolism
279:rapid heart rate
263:which includes:
150:myophosphorylase
53:
33:
21:
4814:
4813:
4809:
4808:
4807:
4805:
4804:
4803:
4779:
4778:
4777:
4772:
4733:
4695:
4672:Gluconeogenesis
4666:
4590:
4563:
4558:
4521:Extralysosomal:
4520:
4506:
4443:
4439:GALE deficiency
4435:GALT deficiency
4430:GALK deficiency
4414:
4409:
4388:
4356:
4345:De Vivo Disease
4310:
4284:(extracellular)
4283:
4274:
4268:
4254:
4224:
4219:
4218:
4173:
4172:
4105:
4083:- IamGSD videos
4071:Wayback Machine
4059:
4054:
4053:
4001:
4000:
3996:
3980:
3959:
3958:
3954:
3946:
3944:
3942:
3917:
3916:
3912:
3904:
3902:
3900:
3875:
3874:
3867:
3813:
3812:
3808:
3778:
3777:
3773:
3727:
3726:
3722:
3684:
3683:
3679:
3627:
3626:
3619:
3583:
3582:
3578:
3571:
3558:
3557:
3548:
3512:
3511:
3507:
3469:
3468:
3464:
3420:
3419:
3415:
3364:
3363:
3359:
3317:
3316:
3312:
3261:
3260:
3253:
3244:
3242:
3234:
3233:
3229:
3185:
3184:
3180:
3171:
3169:
3161:
3160:
3156:
3147:
3145:
3139:
3138:
3134:
3092:
3091:
3087:
3045:
3044:
3040:
2987:
2986:
2982:
2936:
2935:
2928:
2886:
2885:
2881:
2872:
2870:
2868:www.rhea-db.org
2862:
2861:
2857:
2814:
2813:
2809:
2788:
2786:
2784:www.uniprot.org
2774:
2773:
2769:
2733:
2732:
2728:
2699:(Pt 1): 17â22.
2689:
2688:
2684:
2642:
2641:
2637:
2587:
2586:
2582:
2544:
2543:
2539:
2509:
2508:
2504:
2460:
2459:
2452:
2422:
2421:
2417:
2381:
2380:
2376:
2332:
2331:
2327:
2310:
2258:
2257:
2250:
2199:
2198:
2194:
2146:
2145:
2141:
2107:
2106:
2097:
2075:
2074:
2065:
2058:
2043:
2042:
2033:
1987:
1986:
1977:
1957:
1956:
1952:
1944:
1937:
1936:
1927:
1875:
1874:
1870:
1824:
1823:
1816:
1808:
1801:
1800:
1787:
1743:
1742:
1731:
1722:
1720:
1712:
1711:
1707:
1655:
1654:
1650:
1606:
1605:
1598:
1556:
1555:
1548:
1539:
1537:
1529:
1528:
1524:
1482:
1481:
1477:
1435:
1434:
1430:
1388:
1387:
1383:
1333:
1332:
1319:
1275:
1274:
1261:
1223:
1222:
1218:
1174:
1173:
1160:
1147:
1143:
1136:
1115:
1114:
1110:
1074:
1073:
1069:
1062:
1041:
1040:
1031:
1022:
1020:
1012:
1011:
1007:
1002:
968:
949:
917:
880:
760:
754:
700:creatine kinase
688:
661:skeletal muscle
601:There are some
599:
556:
554:Pathophysiology
541:
533:
522:
514:
506:
501:
453:
329:muscle weakness
321:skeletal muscle
314:
290:rapid breathing
257:
224:
212:
195:
190:
180:In the classic
178:
173:
31:
28:
23:
22:
18:McArdle disease
15:
12:
11:
5:
4812:
4810:
4802:
4801:
4796:
4791:
4781:
4780:
4774:
4773:
4771:
4770:
4759:
4754:
4753:
4752:
4741:
4739:
4735:
4734:
4732:
4731:
4726:
4720:
4715:
4709:
4707:
4701:
4700:
4697:
4696:
4694:
4693:
4687:
4682:
4676:
4674:
4668:
4667:
4665:
4664:
4658:
4655:
4652:
4647:
4642:
4637:
4631:
4621:
4619:
4610:
4600:
4599:
4596:
4595:
4592:
4591:
4589:
4588:
4582:
4575:
4573:
4560:
4559:
4557:
4556:
4550:
4544:
4538:
4532:
4525:
4523:
4514:
4512:Glycogenolysis
4508:
4507:
4505:
4504:
4498:
4496:Lafora disease
4493:
4487:
4481:
4474:
4472:
4463:
4453:
4452:
4449:
4448:
4445:
4444:
4442:
4441:
4432:
4426:
4424:
4411:
4410:
4408:
4407:
4402:
4396:
4394:
4382:
4379:Monosaccharide
4372:
4362:
4361:
4358:
4357:
4355:
4354:
4348:
4342:
4337:
4327:
4321:
4319:
4316:Monosaccharide
4312:
4311:
4309:
4308:
4303:
4297:
4295:
4285:
4276:
4275:
4265:monosaccharide
4255:
4253:
4252:
4245:
4238:
4230:
4221:
4220:
4217:
4216:
4205:
4194:
4182:
4181:
4179:
4175:
4174:
4171:
4170:
4159:
4148:
4137:
4122:
4106:
4101:
4100:
4098:
4097:Classification
4091:
4090:
4084:
4078:
4073:
4058:
4057:External links
4055:
4052:
4051:
3994:
3978:
3952:
3940:
3910:
3898:
3865:
3826:(6): 791â797.
3806:
3787:(6): 370â371.
3771:
3720:
3693:(4): 778â786.
3677:
3617:
3596:(7): 956â963.
3576:
3569:
3546:
3505:
3478:(6): 922â928.
3462:
3413:
3378:(2): 274â282.
3357:
3310:
3251:
3227:
3198:(2): 153â159.
3178:
3154:
3132:
3085:
3058:(4): 991â994.
3038:
3001:(3): 551â566.
2980:
2949:(1): 157â166.
2926:
2899:(6): 728â736.
2879:
2855:
2807:
2767:
2726:
2682:
2635:
2580:
2537:
2502:
2450:
2431:(4): 502â517.
2415:
2394:(7): 538â541.
2374:
2325:
2248:
2192:
2139:
2095:
2063:
2056:
2031:
1975:
1950:
1947:. AGSD-UK Ltd.
1925:
1868:
1814:
1785:
1729:
1705:
1668:(5): 391â394.
1648:
1619:(2): 121â125.
1596:
1546:
1522:
1495:(3): 186â188.
1475:
1428:
1401:(3): 195â201.
1381:
1346:(1): 157â160.
1317:
1288:(9): 852â855.
1259:
1232:(4): 641â645.
1216:
1187:(7): 575â579.
1158:
1141:
1134:
1108:
1087:(2): 203â204.
1081:Human Mutation
1067:
1060:
1029:
1004:
1003:
1001:
998:
997:
996:
990:
985:
980:
974:
967:
964:
948:
945:
916:
913:
879:
876:
871:allosterically
862:
861:
855:
845:
844:
838:
832:
822:
821:
814:
807:
806:
805:
799:
793:
780:
777:
771:
756:Main article:
753:
750:
686:
625:gene mutations
598:
595:
582:allosterically
578:conformational
555:
552:
548:pH levels rise
539:
531:
521:
518:
512:
505:
502:
500:
497:
452:
449:
437:rhabdomyolysis
425:fat metabolism
415:) rather than
347:glycogenolysis
325:rhabdomyolysis
313:
310:
300:
299:
293:
282:
277:inappropriate
275:
272:
269:muscle fatigue
256:
253:
245:consanguineous
223:
222:Mild phenotype
220:
211:
208:
194:
191:
189:
186:
177:
174:
172:
169:
165:Guy's Hospital
117:
116:
113:
107:
106:
103:
99:
98:
95:
91:
90:
86:
80:
79:
76:
70:
69:
66:
60:
59:
55:
54:
46:
45:
42:
38:
37:
29:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
4811:
4800:
4797:
4795:
4792:
4790:
4787:
4786:
4784:
4768:
4764:
4760:
4758:
4755:
4751:
4748:
4747:
4746:
4745:Hyperoxaluria
4743:
4742:
4740:
4736:
4730:
4727:
4724:
4721:
4719:
4716:
4714:
4711:
4710:
4708:
4706:
4702:
4691:
4688:
4686:
4683:
4681:
4678:
4677:
4675:
4673:
4669:
4662:
4659:
4656:
4653:
4651:
4648:
4646:
4643:
4641:
4638:
4635:
4632:
4630:
4626:
4623:
4622:
4620:
4618:
4614:
4611:
4609:
4605:
4601:
4586:
4585:Danon disease
4583:
4580:
4577:
4576:
4574:
4570:
4566:
4561:
4554:
4551:
4548:
4545:
4542:
4539:
4536:
4533:
4530:
4527:
4526:
4524:
4518:
4515:
4513:
4509:
4502:
4499:
4497:
4494:
4491:
4488:
4485:
4482:
4479:
4476:
4475:
4473:
4471:
4467:
4464:
4462:
4458:
4454:
4440:
4436:
4433:
4431:
4428:
4427:
4425:
4421:
4417:
4412:
4406:
4403:
4401:
4398:
4397:
4395:
4391:
4386:
4383:
4380:
4376:
4373:
4371:
4367:
4363:
4352:
4349:
4346:
4343:
4341:
4338:
4335:
4331:
4328:
4326:
4323:
4322:
4320:
4317:
4313:
4307:
4304:
4302:
4299:
4298:
4296:
4293:
4289:
4286:
4281:
4277:
4272:
4266:
4262:
4258:
4251:
4246:
4244:
4239:
4237:
4232:
4231:
4228:
4215:
4211:
4210:
4206:
4204:
4200:
4199:
4195:
4193:
4189:
4188:
4184:
4183:
4180:
4176:
4169:
4165:
4164:
4160:
4158:
4154:
4153:
4149:
4147:
4143:
4142:
4138:
4136:
4132:
4131:
4127:
4123:
4121:
4117:
4116:
4112:
4108:
4107:
4104:
4099:
4095:
4088:
4085:
4082:
4079:
4077:
4074:
4072:
4068:
4064:
4061:
4060:
4056:
4047:
4043:
4038:
4033:
4029:
4025:
4021:
4017:
4013:
4009:
4005:
3998:
3995:
3990:
3985:
3981:
3975:
3971:
3967:
3963:
3956:
3953:
3943:
3937:
3933:
3929:
3925:
3921:
3914:
3911:
3901:
3895:
3891:
3887:
3883:
3879:
3872:
3870:
3866:
3861:
3857:
3852:
3847:
3842:
3837:
3833:
3829:
3825:
3821:
3817:
3810:
3807:
3802:
3798:
3794:
3790:
3786:
3782:
3775:
3772:
3767:
3763:
3758:
3753:
3748:
3743:
3739:
3735:
3731:
3724:
3721:
3716:
3712:
3708:
3704:
3700:
3696:
3692:
3688:
3681:
3678:
3673:
3669:
3664:
3659:
3655:
3651:
3647:
3643:
3639:
3635:
3631:
3624:
3622:
3618:
3613:
3609:
3604:
3599:
3595:
3591:
3587:
3580:
3577:
3572:
3570:1-59377-192-4
3566:
3562:
3555:
3553:
3551:
3547:
3542:
3538:
3533:
3528:
3524:
3520:
3516:
3509:
3506:
3501:
3497:
3493:
3489:
3485:
3481:
3477:
3473:
3466:
3463:
3458:
3454:
3449:
3444:
3440:
3436:
3432:
3428:
3424:
3417:
3414:
3409:
3405:
3401:
3397:
3393:
3389:
3385:
3381:
3377:
3373:
3369:
3361:
3358:
3353:
3349:
3345:
3341:
3337:
3333:
3329:
3325:
3321:
3314:
3311:
3306:
3302:
3298:
3294:
3290:
3286:
3282:
3278:
3274:
3270:
3266:
3258:
3256:
3252:
3241:
3237:
3231:
3228:
3223:
3219:
3215:
3211:
3206:
3201:
3197:
3193:
3189:
3182:
3179:
3168:
3164:
3158:
3155:
3144:
3143:
3136:
3133:
3128:
3124:
3120:
3116:
3112:
3108:
3104:
3100:
3096:
3089:
3086:
3081:
3077:
3073:
3069:
3065:
3061:
3057:
3053:
3049:
3042:
3039:
3034:
3030:
3025:
3020:
3016:
3012:
3008:
3004:
3000:
2996:
2992:
2984:
2981:
2976:
2972:
2967:
2962:
2957:
2952:
2948:
2944:
2940:
2933:
2931:
2927:
2922:
2918:
2914:
2910:
2906:
2902:
2898:
2894:
2890:
2883:
2880:
2869:
2865:
2859:
2856:
2851:
2847:
2842:
2837:
2833:
2829:
2825:
2821:
2817:
2811:
2808:
2805:
2803:
2798:
2785:
2781:
2779:
2771:
2768:
2763:
2759:
2754:
2749:
2745:
2741:
2737:
2730:
2727:
2722:
2718:
2714:
2710:
2706:
2702:
2698:
2694:
2686:
2683:
2678:
2674:
2670:
2666:
2662:
2658:
2654:
2650:
2646:
2639:
2636:
2631:
2627:
2623:
2619:
2615:
2611:
2607:
2603:
2599:
2595:
2591:
2584:
2581:
2576:
2572:
2568:
2564:
2560:
2556:
2552:
2548:
2541:
2538:
2533:
2529:
2525:
2521:
2517:
2513:
2506:
2503:
2498:
2494:
2489:
2484:
2480:
2476:
2472:
2468:
2464:
2457:
2455:
2451:
2446:
2442:
2438:
2434:
2430:
2426:
2419:
2416:
2411:
2407:
2402:
2397:
2393:
2389:
2385:
2378:
2375:
2370:
2366:
2362:
2358:
2353:
2348:
2344:
2340:
2336:
2329:
2326:
2321:
2315:
2306:
2302:
2297:
2292:
2288:
2284:
2279:
2274:
2270:
2266:
2262:
2255:
2253:
2249:
2244:
2240:
2236:
2232:
2228:
2224:
2220:
2216:
2212:
2208:
2204:
2196:
2193:
2188:
2184:
2180:
2176:
2171:
2166:
2162:
2158:
2154:
2150:
2143:
2140:
2135:
2131:
2127:
2123:
2119:
2115:
2111:
2104:
2102:
2100:
2096:
2091:
2087:
2083:
2079:
2072:
2070:
2068:
2064:
2059:
2053:
2049:
2048:
2040:
2038:
2036:
2032:
2027:
2023:
2018:
2013:
2008:
2003:
1999:
1995:
1991:
1984:
1982:
1980:
1976:
1971:
1967:
1963:
1962:
1954:
1951:
1943:
1942:
1934:
1932:
1930:
1926:
1921:
1917:
1912:
1907:
1903:
1899:
1895:
1891:
1887:
1883:
1879:
1872:
1869:
1864:
1860:
1855:
1850:
1845:
1840:
1836:
1832:
1828:
1821:
1819:
1815:
1807:
1806:
1798:
1796:
1794:
1792:
1790:
1786:
1781:
1777:
1773:
1769:
1764:
1759:
1755:
1751:
1747:
1740:
1738:
1736:
1734:
1730:
1719:
1715:
1709:
1706:
1701:
1697:
1692:
1687:
1683:
1679:
1675:
1671:
1667:
1663:
1659:
1652:
1649:
1644:
1640:
1636:
1632:
1627:
1622:
1618:
1614:
1610:
1603:
1601:
1597:
1592:
1588:
1584:
1580:
1576:
1572:
1568:
1564:
1560:
1553:
1551:
1547:
1536:
1532:
1526:
1523:
1518:
1514:
1510:
1506:
1502:
1498:
1494:
1490:
1486:
1479:
1476:
1471:
1467:
1463:
1459:
1455:
1451:
1447:
1443:
1439:
1432:
1429:
1424:
1420:
1416:
1412:
1408:
1404:
1400:
1396:
1392:
1385:
1382:
1377:
1373:
1369:
1365:
1361:
1357:
1353:
1349:
1345:
1341:
1337:
1330:
1328:
1326:
1324:
1322:
1318:
1313:
1309:
1305:
1301:
1296:
1291:
1287:
1283:
1279:
1272:
1270:
1268:
1266:
1264:
1260:
1255:
1251:
1247:
1243:
1239:
1235:
1231:
1227:
1220:
1217:
1212:
1208:
1204:
1200:
1195:
1190:
1186:
1182:
1178:
1171:
1169:
1167:
1165:
1163:
1159:
1156:
1155:Who Named It?
1152:
1151:
1150:Brian McArdle
1145:
1142:
1137:
1131:
1127:
1123:
1119:
1112:
1109:
1104:
1100:
1095:
1090:
1086:
1082:
1078:
1071:
1068:
1063:
1057:
1053:
1049:
1045:
1038:
1036:
1034:
1030:
1018:
1017:
1009:
1006:
999:
994:
991:
989:
986:
984:
981:
978:
975:
973:
970:
969:
965:
963:
960:
958:
954:
946:
944:
942:
938:
933:
930:
926:
925:Brian McArdle
922:
914:
912:
908:
905:
900:
898:
894:
888:
886:
877:
875:
872:
868:
859:
856:
853:
850:
849:
848:
842:
839:
836:
833:
830:
827:
826:
825:
819:
818:Brody disease
815:
812:
811:malabsorption
809:Poor diet or
808:
803:
800:
797:
794:
791:
788:
787:
785:
781:
778:
775:
772:
769:
765:
764:
763:
759:
751:
749:
747:
743:
739:
735:
733:
729:
725:
721:
717:
712:
709:
705:
701:
696:
694:
690:
682:
678:
674:
670:
669:AMP deaminase
666:
662:
658:
653:
651:
647:
643:
639:
638:
633:
628:
626:
622:
618:
614:
612:
608:
607:muscle biopsy
604:
596:
594:
592:
590:
583:
579:
575:
571:
566:
564:
560:
553:
551:
549:
543:
537:
528:
526:
519:
517:
515:
503:
498:
496:
493:
488:
486:
482:
478:
474:
469:
466:
457:
450:
448:
446:
442:
438:
434:
428:
426:
420:
418:
414:
409:
407:
406:hyperuricemia
403:
399:
395:
391:
387:
382:
379:
375:
371:
367:
362:
360:
356:
352:
348:
343:
340:
338:
332:
330:
326:
322:
318:
317:Myoglobinuria
311:
308:
304:
297:
294:
291:
287:
283:
280:
276:
273:
270:
266:
265:
264:
262:
254:
252:
250:
246:
242:
237:
233:
229:
221:
219:
217:
209:
207:
204:
200:
192:
187:
185:
183:
175:
170:
168:
166:
162:
161:Brian McArdle
157:
155:
151:
147:
143:
140:, one of the
139:
135:
131:
127:
123:
114:
112:
108:
104:
100:
96:
92:
87:
85:
84:Complications
81:
77:
75:
71:
67:
65:
61:
56:
52:
47:
43:
39:
34:
19:
4765:deficiency,
4634:GSD type VII
4540:
4529:GSD type III
4470:Glycogenesis
4420:galactosemia
4292:Disaccharide
4257:Inborn error
4207:
4196:
4185:
4161:
4150:
4139:
4124:
4109:
4011:
4007:
3997:
3961:
3955:
3945:, retrieved
3923:
3913:
3903:, retrieved
3881:
3823:
3819:
3809:
3784:
3780:
3774:
3737:
3733:
3723:
3690:
3686:
3680:
3637:
3633:
3593:
3589:
3579:
3560:
3522:
3518:
3508:
3475:
3471:
3465:
3433:(1): 53â54.
3430:
3426:
3416:
3375:
3371:
3360:
3327:
3323:
3313:
3272:
3268:
3243:. Retrieved
3239:
3230:
3195:
3191:
3181:
3170:, retrieved
3166:
3157:
3146:, retrieved
3141:
3135:
3102:
3098:
3088:
3055:
3051:
3041:
2998:
2994:
2983:
2946:
2942:
2896:
2892:
2882:
2871:. Retrieved
2867:
2858:
2823:
2819:
2810:
2794:
2787:. Retrieved
2783:
2778:Homo sapiens
2777:
2770:
2743:
2739:
2729:
2696:
2692:
2685:
2652:
2648:
2638:
2597:
2593:
2583:
2550:
2546:
2540:
2518:(2): 75â80.
2515:
2511:
2505:
2470:
2466:
2428:
2424:
2418:
2391:
2387:
2377:
2342:
2338:
2328:
2314:cite journal
2268:
2264:
2210:
2206:
2195:
2152:
2148:
2142:
2117:
2113:
2082:GeneReviewsÂź
2081:
2046:
1997:
1993:
1960:
1953:
1940:
1885:
1881:
1871:
1834:
1830:
1804:
1753:
1749:
1721:. Retrieved
1718:www.omim.org
1717:
1708:
1665:
1661:
1651:
1616:
1612:
1566:
1562:
1538:. Retrieved
1535:www.omim.org
1534:
1525:
1492:
1488:
1478:
1445:
1441:
1431:
1398:
1394:
1384:
1343:
1339:
1285:
1281:
1229:
1225:
1219:
1184:
1180:
1148:
1144:
1117:
1111:
1084:
1080:
1070:
1043:
1021:. Retrieved
1015:
1008:
961:
957:Merino sheep
950:
934:
918:
909:
901:
889:
881:
863:
846:
823:
761:
736:
726:(which is a
713:
708:mitochondria
697:
679:, producing
654:
646:venous blood
635:
629:
615:
600:
586:
567:
557:
544:
529:
523:
507:
491:
489:
484:
480:
476:
472:
470:
462:
430:
422:
410:
383:
363:
344:
341:
333:
315:
306:
301:
258:
228:heterozygous
225:
213:
196:
179:
158:
133:
129:
125:
121:
120:
4547:GSD type IX
4535:GSD type VI
4501:GSD type XV
4484:GSD type IV
4282:, transport
4209:GeneReviews
4187:MedlinePlus
2553:: S75âS81.
2271:: 9658251.
2213:(1): 3â10.
2170:10578/19657
2050:. AGSD-UK.
993:Second wind
937:iodoacetate
897:second wind
732:second wind
691:as part of
685:ammonia (NH
644:to rise in
433:contracture
296:second wind
216:floppy baby
199:limbâgirdle
94:Usual onset
41:Other names
4783:Categories
4757:Pentosuria
4690:GSD type I
4617:Glycolysis
4541:GSD type V
4478:GSD type 0
4381:catabolism
4294:catabolism
4269:Including
4163:DiseasesDB
3947:2023-11-11
3905:2023-11-11
3740:(4): 843.
3245:2022-12-04
2873:2020-12-26
2789:2018-08-31
2600:(3): e49.
2000:(1): 330.
1837:: 744632.
1723:2024-04-23
1540:2024-04-21
1023:2021-12-12
1000:References
947:In animals
677:deaminated
267:premature
251:families.
243:family of
203:homozygous
167:, London.
4565:Lysosomal
4416:Galactose
4318:transport
4198:eMedicine
4028:1469-7793
3734:Nutrients
3715:211121921
3654:1469-493X
3408:218572587
3392:0364-5134
3352:203582211
3344:0960-8966
3289:1097-4598
3275:: 64â71.
3119:8750-7587
3072:0161-7567
3015:1469-7793
2913:0148-639X
2802:CC BY 4.0
2669:0363-5023
2614:2160-3251
2361:1873-2364
2345:: 19â26.
2287:2090-6668
2227:0195-9131
1902:1473-0480
1811:. IAMGSD.
1780:240123241
1682:0022-2593
1635:0022-510X
1583:1460-2156
1509:0883-0738
1462:0028-3878
1442:Neurology
1415:0148-639X
1376:206298597
1360:1097-4598
1304:1873-2364
1211:259141690
878:Treatment
632:physician
597:Diagnosis
536:phosphate
511:vitamin B
504:Structure
366:myokinase
355:tachypnea
323:known as
182:phenotype
89:syndrome.
64:Specialty
4461:glycogen
4390:Fructose
4067:Archived
4046:25873271
3860:16590445
3766:36839201
3707:32060930
3672:25391139
3612:10891977
3541:14695410
3500:31921729
3492:16718692
3457:17000713
3400:32386344
3297:29350794
3222:43237025
3214:12210784
3033:36370371
3024:10099855
2975:24833339
2921:12766985
2850:27899622
2804:license.
2762:17172620
2721:41149417
2713:14748827
2677:26612634
2622:29252879
2575:41588282
2497:25873271
2445:13733779
2410:25054987
2369:38042739
2305:30363996
2235:29251685
2179:29594644
2134:20861058
2090:20301518
2026:33234167
1970:28846335
1920:16864568
1863:34721068
1772:34848128
1643:10450796
1591:19433441
1368:28120463
1312:28629675
1254:22423841
1246:10716777
1203:37354872
1103:17221871
966:See also
904:creatine
784:ischemia
766:Another
665:pyruvate
520:Function
451:Genetics
236:intronic
74:Symptoms
4604:Glucose
4457:Glucose
4370:glucose
4280:Sucrose
4203:med/911
4157:D006012
4063:Euromac
4037:4500353
3989:7158298
3828:Bibcode
3801:3855500
3757:9964801
3663:7173724
3448:2465149
3330:: S39.
3305:3885470
3127:2347781
3080:6953061
2966:4009758
2943:Biology
2841:5210571
2630:1883161
2567:7603532
2532:3473284
2488:4500353
2296:6186374
2243:4414503
2187:4394513
2017:7687836
1911:2579473
1854:8555491
1700:9152836
1691:1050946
1517:2768781
1423:6929403
943:et al.
929:lactate
915:History
893:insulin
867:GSD-IXd
650:ammonia
642:lactate
637:History
249:Finnish
136:, is a
4767:PRKAG2
4625:MODY 2
4492:(APBD)
4366:Hexose
4192:000329
4146:232600
4044:
4034:
4026:
3986:
3976:
3938:
3896:
3858:
3851:222638
3848:
3799:
3764:
3754:
3713:
3705:
3670:
3660:
3652:
3610:
3567:
3539:
3498:
3490:
3455:
3445:
3406:
3398:
3390:
3350:
3342:
3303:
3295:
3287:
3240:iamgsd
3220:
3212:
3172:22 May
3163:"PYGM"
3148:22 May
3125:
3117:
3078:
3070:
3031:
3021:
3013:
2973:
2963:
2919:
2911:
2848:
2838:
2760:
2719:
2711:
2675:
2667:
2628:
2620:
2612:
2573:
2565:
2530:
2495:
2485:
2443:
2408:
2367:
2359:
2303:
2293:
2285:
2241:
2233:
2225:
2185:
2177:
2132:
2088:
2054:
2024:
2014:
1968:
1918:
1908:
1900:
1861:
1851:
1778:
1770:
1698:
1688:
1680:
1641:
1633:
1589:
1581:
1515:
1507:
1470:101896
1468:
1460:
1421:
1413:
1374:
1366:
1358:
1310:
1302:
1252:
1244:
1209:
1201:
1132:
1101:
1058:
102:Causes
4738:Other
4723:SDDHD
4273:(GSD)
4135:271.0
4120:E74.0
3711:S2CID
3496:S2CID
3404:S2CID
3348:S2CID
3301:S2CID
3218:S2CID
2717:S2CID
2626:S2CID
2571:S2CID
2239:S2CID
2183:S2CID
1945:(PDF)
1809:(PDF)
1776:S2CID
1372:S2CID
1250:S2CID
1207:S2CID
742:MUAPs
587:(See
540:(n-1)
492:R138W
402:S-AMP
286:heavy
241:Druze
130:GSD-V
4629:HHF3
4168:5307
4152:MeSH
4141:OMIM
4130:9-CM
4042:PMID
4024:ISSN
3974:ISBN
3936:ISBN
3894:ISBN
3856:PMID
3797:PMID
3762:PMID
3703:PMID
3668:PMID
3650:ISSN
3638:2014
3608:PMID
3565:ISBN
3537:PMID
3488:PMID
3453:PMID
3396:PMID
3388:ISSN
3340:ISSN
3293:PMID
3285:ISSN
3210:PMID
3174:2013
3150:2013
3123:PMID
3115:ISSN
3076:PMID
3068:ISSN
3029:PMID
3011:ISSN
2971:PMID
2917:PMID
2909:ISSN
2846:PMID
2758:PMID
2709:PMID
2673:PMID
2665:ISSN
2618:PMID
2610:ISSN
2563:PMID
2528:PMID
2493:PMID
2441:PMID
2406:PMID
2365:PMID
2357:ISSN
2320:link
2301:PMID
2283:ISSN
2269:2018
2231:PMID
2223:ISSN
2175:PMID
2130:PMID
2086:PMID
2052:ISBN
2022:PMID
1966:PMID
1916:PMID
1898:ISSN
1859:PMID
1768:PMID
1696:PMID
1678:ISSN
1639:PMID
1631:ISSN
1587:PMID
1579:ISSN
1513:PMID
1505:ISSN
1466:PMID
1458:ISSN
1419:PMID
1411:ISSN
1364:PMID
1356:ISSN
1308:PMID
1300:ISSN
1242:PMID
1199:PMID
1130:ISBN
1099:PMID
1056:ISBN
955:and
746:CMAP
683:and
630:The
485:Y84X
481:R49X
477:R50X
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