185:
movements that some Glut 1 patients exhibit are rapid, multidirectional, and there is often a head movement in the same direction as the eye movement. These abnormal eye movements were recently named aberrant gaze saccades. Hemiplegia or alternating intermittent hemiplegia may occur in some patients and mimic stroke-like symptoms. Another characteristic of GLUT1 deficiency is that symptoms are sensitive to food (e.g. symptoms that can be temporarily improved by intake of carbohydrates), and symptoms may be worse in the morning upon and just after waking. All symptoms may be aggravated or triggered by factors such as hunger, fatigue, heat, anxiety, and sickness. The symptom picture for each patient may evolve and change over time as children with GLUT1 deficiency grow and develop through adolescence and into adulthood. Data on adult Glut1DS are just emerging. Changes in symptomatology over time include a shift from infantile-childhood onset epilepsy to adolescent-adult onset movement disorders including PED.
136:. The presence and severity of symptoms vary considerably between affected individuals. Individuals with the disorder generally have frequent seizures (epilepsy), often beginning in the first months of life. In newborns, the first sign of the disorder may be involuntary eye movements that are rapid and irregular. Patients typically begin to experience seizures between three and six months of age, but some occur much later. Other seizure types may occur, including generalized tonic clonic, focal, myoclonic, atypical absence, atonic or unclassified.
64:
37:
144:). Typically, seizures start between one and four months in 90% of cases with abnormal eye movements and apneic episodes preceding the onset of seizures in some cases. Seizures usually are complex to begin with and later become more generalized. Seizure frequency is variable and a history of decreasing frequency during times of
279:
Ketone esters are an area of dietary therapy currently under investigation for potential treatment of GLUT1 deficiency and other medical conditions. Ketone esters are synthetic ketones that break down into natural ketones when metabolized. Ketone esters have been shown in recent research to improve
231:
ratio (<0.4)are indicatieve of GLUT1 deficiency. A genetic mutation in the SLC2A1 gene also confirms the diagnosis, although mutations have not been identified in approximately 15% of GLUT1 deficiency patients. A highly specialized lab test called the red blood cell uptake assay may confirm GLUT1
184:
may include headaches, confusion, and loss of energy. Episodes of confusion, lack of energy/stamina, and/or muscle twitches may occur; particularly during periods without food. Some young patients experience occasional abnormal eye movements that may resemble opsoclonus or nystagmus. The rapid eye
165:
The syndrome can cause infantile seizures refractory to anticonvulsive drugs, developmental delay, acquired microcephaly and neurologic manifestations including spasticity, hypotonia and ataxia. The frequency, severity and types of seizures may vary considerably among GLUT1 deficiency patients and do
283:
Triheptanoin (C7 oil), a triglyceride oil synthesized from castor beans. is an investigational pharmaceutical-grade medical food that has shown potential as a treatment for a number of inherited metabolic diseases. When metabolized by the body, C7 oil produces ketones similar to those produced on
275:
While the classic ketogenic diet is commonly used for younger children, compliance with the ketogenic diet can be difficult for older children and adults. In recent years, the
Modified Atkins Diet, and MCT oil based diets, have gained increasing acceptance among doctors treating these groups and may
179:
relate to the quality of motor functions. Walking may be delayed or difficult because legs are stiff (spasticity), balance is poor (ataxia) or posture is twisted (dystonia). Fine motor deficits may affect speech quality and manipulative skills, such as writing. These abnormalities may be constant
247:
is usually recommended as it can help to control seizures. The ketogentic diet is the current standard of care treatment, with 80% of patients having >90% seizure reduction and improving some movement disorders in approximately two thirds of GLUT1 deficiency patients. There is also some evidence
298:
Therapies and rehabilitative services are beneficial since most GLUT1 deficiency patients experience movement disturbances as well as speech and language disorders. Occupational, physical, and speech/language therapies are standard for most patients, especially in childhood. Many families greatly
263:
While ketogenic diets have been proven effective to control seizures and relieve some movement disorders in many GLUT1 deficiency patients, some patients do not respond as well as others. In addition, some critical symptoms, including cognitive deficits and certain movement difficulties, tend to
196:
In GLUT1 deficiency syndrome, one of the two genes is damaged by a mutation and an insufficient amount protein is made. As a result, insufficient glucose is passing the blood brain barrier. Having less functional GLUT1 protein reduces the amount of glucose available to brain cells, which affects
291:
The inhibition of insulin production to increase glucose in the blood with the medicine diazoxide, in combination with continuous glucose monitoring, has been successful in one adolescent. The increased blood glucose also increases the availability of glucose in the brain, through the increased
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Mothers of infants with this disorder usually have uneventful pregnancies and deliveries, with the child appearing normal and within typical birth weight and length ranges. Infants with GLUT1 deficiency syndrome have a normal head size at birth, but the growth of the brain and skull is slow, in
148:
may prompt a diagnosis. It is estimated that 10% of individuals with Glut 1 Deficiency do not have seizures and symptoms are typically less severe in these cases. Most of these non-epileptic cases will still have developmental delay, intellectual delays and movement disorders such as ataxia,
267:
The ketogenic diet must be carefully crafted and tailored to meet the needs of each patient and reduce the risk of side effects. It should only be used under the care of medical professionals and dietitians, and it may take some time to establish the ideal ratio of fat versus proteins and
251:
The ketogenic diet is a diet high in fat and low in protein and carbohydrates, with up to 90% of calories obtained from fat. Since the diet is low in carbohydrates, the body gets little glucose, normally the main energy source. The fat in the diet is converted by the liver in
96:, the protein that transports glucose across the blood brain barrier. Glucose Transporter Type 1 Deficiency Syndrome has an estimated birth incidence of 1 in 90,000 to 1 in 24,300. This birth incidence translates to an estimated prevalence of 3,000 to 7,000 in the U.S.
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Early diagnosis is crucial in order to initiate treatment during the important early stages of brain development. To make a proper diagnosis, it is important to know the various symptoms of GLUT1 deficiency and how those symptoms evolve with age.
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not necessarily correspond to the severity of other symptoms. Most seizures in GLUT1 deficiency patients are not easily treated with anti-seizure medications. A minority of GLUT1 deficiency patients (approximately 10%) do not experience seizures.
264:
persist in GLUT1 deficiency patients treated by a ketogenic diet, raising the question whether GLUT1 deficiency is caused simply by a lack of proper brain energy or if there are more complicated and widespread systems and processes affected.
1312:
916:
Solis, Elysandra M.; Good, Levi B.; Vázquez, Rafael Granja; Patnaik, Sourav; Hernandez-Reynoso, Ana G.; Ma, Qian; Angulo, Gustavo; Dobariya, Aksharkumar; Cogan, Stuart F.; Pancrazio, Joseph J.; Pascual, Juan M.; Jakkamsetti, Vikram (2023).
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are lowered IQ and adaptive behavior scores, expressive-language deficits, weakness in fine motor skills, limited visual attention to details, weakness in abstract analytical skills, and weakness in transfer of learning to new contexts.
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Some symptoms may be present all the time (like walking difficulties), while other signs may come and go (like seizures or poor balance). These findings can be clustered under three major domains: cognition, behavior and movement.
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of some cognitive benefits for GLUT1 deficiency patients on a ketogenic diet, and most parents report improved energy, alertness, balance, coordination, and concentration, especially when the diet is started early in childhood.
200:
Around 90% of cases of GLUT1 deficiency syndrome are de novo mutations of the SLC2A1 gene (a mutation not present in the parents, but present in one of the two copies of the gene in the baby), although it can be inherited.
174:
affect relations with other people and may include short attention span, intractability, and delays in achieving age-appropriate behaviors. Sociability with peers, however, is a strength in GLUT1 deficiency patients.
276:
be more feasible for quality of life and compliance. There is growing empirical evidence that these diets can provide at least some of the benefits of the classical ketogenic diet for some GLUT1 deficiency patients.
268:
carbohydrates and other diet variables for each individual patient to experience optimal tolerance and benefits. Variations on the ketogenic diet, including the
Modified Atkins Diet, and diets based on
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brain development and function. Because glucose is the primary source of fuel for the brain, patients with GLUT1 deficiency have insufficient cellular energy to permit normal brain growth and function.
170:
often become apparent as developmental milestones are delayed. Cognitive deficits range from subtle learning difficulties to severe intellectual disabilities. Often speech and language are impaired.
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In a study focusing on GLUT1 mice model brain slides, physiological glucose concentration was found to be a modulator of frequency oscillations and less frequent 30–50 Hz or gamma oscillations.
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Glut 1 Deficiency can be inherited in an autosomal dominant manner. A person with GLUT1 deficiency syndrome has a 50% chance of passing along the altered SLC2A1 gene to his or her offspring.
260:. Ketone bodies are transported across the blood-brain barrier by other means than the GLUT1 protein and thus serve as an alternative fuel for the brain when glucose is not available.
887:
1412:
520:
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919:"Isolation of the murine Glut1 deficient thalamocortical circuit: wavelet characterization and reverse glucose dependence of low and gamma frequency oscillations"
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a ketogenic diet in addition to other types of ketones that are thought to fulfill further metabolic requirements in the absence of sufficient glucose.
1800:
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648:. In Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E.; Bean, Lora J.H.; Stephens, Karen; Amemiya, Anne (eds.).
1939:
1838:
1083:"Defective Glucose Transport across the Blood-Brain Barrier as a Cause of Persistent Hypoglycorrhachia, Seizures, and Developmental Delay"
1081:
De Vivo, Darryl C.; Trifiletti, Rosario R.; Jacobson, Ronald I.; Ronen, Gabriel M.; Behmand, Ramin A.; Harik, Sami I. (5 September 1991).
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transfer of more glucose through the GLUT1-protein. She became seizure-free, became more physically active and had improved cognition.
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and/or a genetic analysis through a lumbar puncture (spinal tap). A low glucose value in CSF (<2.2 mmol/L) or lowered CSF/
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The GLUT1 protein that transports glucose across the blood brain barrier is encoded by the SLC2A1 gene, located on chromosome 1.
1954:
1944:
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GLUT1 deficiency is characterized by an array of signs and symptoms including mental and motor developmental delays, infantile
220:
GLUT1 deficiency is diagnosed based on the clinical features in combination with determining the glucose concentration in the
1919:
779:"Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group"
862:
674:
Pearson, Toni S.; Pons, Roser; Engelstad, Kristin; Kane, Steven A.; Goldberg, Michael E.; Vivo, Darryl C. De (2017-04-25).
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benefit from other therapies such as aquatic therapy, hippotherapy, specific learning strategies, and behavioral therapy.
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1705:
1638:
888:"Glucose transporter type 1 deficiency syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
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1517:
367:"Understanding Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS): Current Management and Future Approaches"
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include receptive language or understanding, social skills, fun-loving and empathetic personalities, perseverance.
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Anti-seizure medications are generally not effective, since they do not provide nourishment to the starved brain.
1805:
1685:
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269:
392:"Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort"
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seizures and movement disorders in GLUT1 deficient mice, but human studies have not yet been conducted.
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however failed to find an improvement in patients with GLUT1 DS with disabling movement disorders.
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or intermittent (paroxysmal). Paroxysmal exercise-induced dyskinesia (PED) may also be present.
1173:"Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome"
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Researchers are studying gene therapy as a possible effective treatment for Glut 1 Deficiency.
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1221:"Sanofi Awarded New Funding to Monani Lab to Study Glucose Transporter-1 Deficiency Syndrome"
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733:"Stroke-like episodes add to the phenotypic spectrum of GLUT1 deficiency syndrome"
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332:"Glut-1 deficiency: From Pathophysilogy ad genetics to abroad clinical spectrum"
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Ticus I, Cano A, Villeneuve N, Milh M, Mancini J, Chabrol B (August 2008). "".
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oil have also been shown to be beneficial for some GLUT1 deficiency patients.
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neurologic phenomena and sometimes deceleration of head growth also known as
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GeneReview/NIH/UW entry on
Glucose Transporter Type 1 Deficiency Syndrome
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Wang, Pascual, Vivo. "Glucose
Transporter Type 1 Deficiency Syndrome".
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1124:"Towards a more palatable treatment for GLUT1 deficiency syndrome"
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Braakman, H.M.H.; Nicolai, J.; Willemsen, M.A.A.P. (2017-06-01).
256:, which causes a build up of ketones in the blood stream, called
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676:"Paroxysmal eye–head movements in GLUT1 deficiency syndrome"
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genetic metabolic disorder associated with a deficiency of
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435:
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severe cases resulting in an abnormally small head size (
85:
or
Glucose transporter type 1 deficiency syndrome, is an
644:
Wang, Dong; Pascual, Juan M.; De Vivo, Darryl (1993).
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992:
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De Vivo disease has an autosomal dominant pattern of
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652:. Seattle (WA): University of Washington, Seattle.
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26:
21:
646:"Glucose Transporter Type 1 Deficiency Syndrome"
1368:Glucose Transporter Type 1 Deficiency Syndrome
361:
359:
232:deficiency but is not commercially available.
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8:
1128:Developmental Medicine & Child Neurology
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519:: CS1 maint: multiple names: authors list (
1271:: CS1 maint: numeric names: authors list (
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1245:GLUT1 deficiency Foundation (2018-01-30),
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35:
18:
1906:Mitochondrial pyruvate carrier deficiency
1196:
1139:
1098:
952:
934:
802:
707:
415:
347:
737:European Journal of Paediatric Neurology
1801:Recessive multiple epiphyseal dysplasia
1564:Congenital endothelial dystrophy type 2
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243:Once diagnosed, a medically supervised
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7:
1950:Membrane transport protein disorders
568:
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564:
562:
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1611:Thyroid dyshormonogenesis type 1
1141:10.1111/j.1469-8749.2011.03946.x
574:"Reaching for a brighter future"
1788:Multiple epiphyseal dysplasia 4
1583:Glucose-galactose malabsorption
1255:from the original on 2021-12-21
1087:New England Journal of Medicine
108:refractory to anticonvulsants,
1122:Brockmann, Knut (2011-07-01).
1053:"Metafora | Diagnostics tests"
1:
1720:Allan–Herndon–Dudley syndrome
1639:Lysinuric protein intolerance
1940:Autosomal dominant disorders
1868:Acrodermatitis enteropathica
1518:Arterial tortuosity syndrome
692:10.1212/WNL.0000000000003867
623:10.1016/j.arcped.2008.04.024
1550:Hereditary elliptocytosis 4
1100:10.1056/NEJM199109053251006
1059:(in French). Archived from
1057:www.metafora-biosystems.com
1028:GLUT1 deficiency Foundation
1004:GLUT1 deficiency Foundation
859:GLUT1 deficiency Foundation
828:"GLUT1 deficiency syndrome"
581:GLUT1 deficiency Foundation
541:"GLUT1 deficiency syndrome"
486:GLUT1 deficiency Foundation
443:"GLUT1 deficiency syndrome"
182:Other intermittent symptoms
1976:
1546:Hereditary spherocytosis 4
936:10.3389/fnins.2023.1191492
826:Reference, Genetics Home.
749:10.1016/j.ejpn.2017.04.995
539:Reference, Genetics Home.
1915:
1806:Atelosteogenesis, type II
923:Frontiers in Neuroscience
892:rarediseases.info.nih.gov
445:. Genetics Home Reference
75:GLUT1 deficiency syndrome
43:
34:
286:A phase 3 clinical trial
1490:Fanconi-Bickel syndrome
832:Genetics Home Reference
777:Klepper, Joerg (2020).
545:Genetics Home Reference
349:10.5937/sanamed1602151A
1955:Neurogenetic disorders
1945:Neurological disorders
1504:Fructose malabsorption
1177:Ann Clin Transl Neurol
151:alternating hemiplegia
1920:solute carrier family
1882:African iron overload
1811:Diastrophic dysplasia
330:Todor, Arsov (2016).
1853:Von Gierke's disease
1734:Von Gierke's disease
1024:"Professional Guide"
852:"Professional Guide"
408:10.1093/brain/awz195
371:Epilepsy Foundation
172:Behavioral symptoms
1569:Fuchs' dystrophy 4
1354:External resources
1189:10.1002/acn3.51462
795:10.1002/epi4.12414
168:Cognitive symptoms
1927:
1926:
1692:Gitelman syndrome
1448:Episodic ataxia 6
1388:
1387:
1183:(11): 2205–2209.
686:(17): 1666–1673.
177:Movement symptoms
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16:Medical condition
1967:
1825:Pendred syndrome
1597:Renal glycosuria
1422:Genetic disorder
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1476:De Vivo disease
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1171:Logel (2021).
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789:(3): 354–365.
783:Epilepsia Open
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1960:Rare diseases
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1074:
1063:on 2018-02-01
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868:on 2015-10-03
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617:(8): 1296–9.
616:
613:(in French).
612:
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590:on 2015-10-02
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254:ketone bodies
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154:
153:or dystonia.
152:
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1326:
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1257:, retrieved
1247:
1240:
1229:. Retrieved
1227:. 2017-06-19
1224:
1215:
1180:
1176:
1166:
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1127:
1117:
1090:
1086:
1076:
1065:. Retrieved
1061:the original
1056:
1047:
1036:. Retrieved
1032:the original
1027:
1018:
1007:. Retrieved
1003:
926:
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911:
900:. Retrieved
896:the original
891:
882:
870:. Retrieved
863:the original
858:
846:
835:. Retrieved
831:
821:
786:
782:
740:
736:
726:
683:
679:
650:GeneReviews®
649:
639:
614:
611:Arch Pediatr
610:
604:
592:. Retrieved
585:the original
580:
548:. Retrieved
544:
515:cite journal
506:
500:
489:. Retrieved
485:
447:. Retrieved
399:
395:
385:
374:. Retrieved
370:
339:
335:
325:
311:Strong Areas
310:
309:
303:
301:
297:
294:
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282:
278:
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266:
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239:
219:
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192:
181:
176:
171:
167:
164:
155:
142:microcephaly
138:
134:microcephaly
103:
100:Presentation
82:
78:
74:
72:
1363:GeneReviews
1000:"Brochures"
929:: 1191492.
507:GeneReviews
482:"Brochures"
46:inheritance
27:Other names
1934:Categories
1653:Cystinuria
1532:Cystinuria
1259:2018-01-31
1231:2018-01-31
1067:2018-01-31
1038:2018-01-31
1009:2018-01-31
902:2018-01-31
837:2017-06-15
550:2018-01-25
491:2018-01-25
449:10 October
376:2018-01-31
317:References
304:Weak Areas
236:Management
130:paroxysmal
126:spasticity
122:opsoclonus
118:dysarthria
1918:see also
1428:disorders
1225:Pathology
1150:1469-8749
945:1662-4548
757:1090-3798
700:0028-3878
680:Neurology
212:Diagnosis
87:autosomal
53:Specialty
1855:, GSD-Ib
1736:, GSD-Ic
1374:Orphanet
1267:citation
1253:archived
1207:34612610
1158:21585366
963:37829723
954:10565352
813:32913944
743:: e176.
718:28341645
658:20301603
631:18556184
426:31302675
189:Genetics
128:, other
114:dystonia
106:seizures
90:dominant
79:GLUT1-DS
1901:SLC54A1
1876:SLC40A1
1862:SLC39A4
1847:SLC37A4
1839:CDOG 2C
1833:SLC35C1
1819:SLC26A4
1796:type 1B
1782:SLC26A2
1757:SLC17A8
1743:SLC17A5
1728:SLC17A3
1714:SLC16A2
1700:SLC16A1
1686:SLC12A3
1672:SLC11A1
1619:SLC6A19
1558:SLC4A11
1512:SLC2A10
1462:SPATCCM
1344:C536830
1322:E74.810
1198:8607448
1109:1714544
872:19 June
804:7469861
709:5405761
594:19 June
417:6658850
336:Sanamed
258:ketosis
229:glucose
161:Effects
146:ketosis
1763:DFNA25
1647:SLC7A9
1633:SLC7A7
1605:SLC5A5
1591:SLC5A2
1577:SLC5A1
1540:SLC4A1
1526:SLC3A1
1498:SLC2A5
1484:SLC2A2
1470:SLC2A1
1456:SLC1A4
1442:SLC1A3
1333:606777
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226:plasma
110:ataxia
60:
1893:51-60
1774:21-40
1664:11-20
1379:71277
866:(PDF)
855:(PDF)
588:(PDF)
577:(PDF)
396:Brain
94:GLUT1
1706:HHF7
1434:1-10
1339:MeSH
1328:OMIM
1273:link
1203:PMID
1154:PMID
1146:ISSN
1105:PMID
959:PMID
941:ISSN
874:2017
809:PMID
753:ISSN
714:PMID
696:ISSN
654:PMID
627:PMID
596:2017
521:link
451:2011
422:PMID
1313:ICD
1193:PMC
1185:doi
1136:doi
1095:doi
1091:325
949:PMC
931:doi
799:PMC
791:doi
745:doi
704:PMC
688:doi
619:doi
412:PMC
404:doi
400:142
344:doi
270:MCT
222:CSF
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