122:
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22:
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Treatment mostly takes the form of supportive care. Owners are advised to keep their dogs out of stressful or exciting situations, avoid high temperature environments and strenuous exercise. It is also important for the owner to be alert for any signs of a hemolytic episode. Dogs carrying the mutated
412:
in the gene that encodes for PFKM. This results in an unstable, truncated protein that lacks normal function. This results in a near complete loss of PFKM activity in the skeletal muscle. Dogs with the mutation display 10–20% of normal PFK activity in their erythrocytes, due to a higher proportion of
854:
Musumeci, Olimpia; Bruno, Claudio; Mongini, Tiziana; Rodolico, Carmelo; Aguennouz, M'hammed; Barca, Emanuele; Amati, Angela; Cassandrini, Denise; Serlenga, Luigi; Vita, Giuseppe; Toscano, Antonio (2012). "Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type
476:
diet also improved the symptoms of an infant with PFK deficiency. The logic behind this treatment is that the low-carb high fat diet forces the body to use fatty acids as a primary energy source instead of glucose. This bypasses the enzymatic defect in glycolysis, lessening the impact of the mutated
258:. The disorder can also manifest itself in the central nervous system, usually in the form of seizures. PFK deficient infants also often have some type of respiratory issue. Survival rate for the infantile form of PFK deficiency is low, and the cause of death is often due to respiratory failure.
456:
that shows excess glycogen accumulation. Glycogen deposits in the muscle are a result of the interruption of normal glucose breakdown that regulates the breakdown of glycogen. Blood tests are conducted to measure the activity of phosphofructokinase, which would be lower in a patient with this
399:
is the cause of phosphofructokinase deficiency. Several different mutations in the gene that encodes for PFKM have been reported in humans, but the result is production of PFKM subunits with little to no function. As a result, affected individuals display only about 50–65% of total normal
497:
Diagnosis of canine phosphofructokinase deficiency is similar to the blood tests used in diagnosis of humans. Blood tests measuring the total erythrocyte PFK activity are used for definitive diagnosis in most cases. DNA testing for presence of the condition is also available.
1322:
1401:
1386:
279:
with hemolytic episodes, exercise intolerance, hemoglobinuria, and pale or jaundiced mucous membranes. Muscle weakness and cramping are not uncommon symptoms, but they are not as common as they are in human PFKM deficiency.
152:
inheritance pattern. It is characterized as a deficiency in the
Phosphofructokinase (PFK) enzyme throughout the body, including the skeletal muscles and red blood cells. Phosphofrucotkinase is an enzyme involved in the
1129:
Malfatti, Edoardo; Birouk, Nazha; Romero, Norma B.; Piraud, Monique; Petit, François M.; Hogrel, Jean-Yves; Laforêt, Pascal (2012-05-15). "Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency".
266:
The defining characteristic of this form of the disorder is hemolytic anemia, in which red blood cells break down prematurely. Muscle weakness and pain are not as common in patients with hemolytic PFK deficiency.
1501:
105:
A rendering of the human muscular form of phosphofructokinase. Mutations in the production of this enzyme are the cause of Tarui's disease. The symmetry of the enzyme is a result of its tetrameric structure.
217:
following damage resulting from processing myoglobin. Nausea and vomiting following strenuous exercise is another common indicator of classic PFK deficiency. Many patients will also display high levels of
193:
Human PFK deficiency is categorized into four types: classic, late-onset, infantile and hemolytic. These types are differentiated by age at which symptoms are observed and which symptoms present.
1250:
448:
Glycogen deposits in the muscle of a human patient, shown by electron microscopy. The presence of this excess glycogen in muscle tissue is a result of phosphofructokinase deficiency.
1494:
230:
Late-onset PFK deficiency, as the name suggests, is a form of the disease that presents later in life. Common symptoms associated with late-onset phosphofructokinase deficiency are
201:
Classic phosphofructokinase deficiency is the most common type of this disorder. This type presents with exercise-induced muscle cramps and weakness (sometimes rhabdomyolysis),
1688:
643:
Wu, Pei-Ling; Yang, Yung-Ning; Tey, Shu-Leei; Yang, San-Nan; Lin, Chien-Seng (25 June 2015). "Infantile form of muscle phosphofructokinase deficiency in a premature neonate".
388:(ADP), which results in a lack of available energy for muscles during heavy exercise. This results in the muscle cramping and pain that are common symptoms of the disease.
2042:
1487:
1479:
1037:"Characterization of the enzymatic lesion in inherited phosphofructokinase deficiency in the dog: an animal analogue of human glycogen storage disease type VII"
297:
of the genetic defect so that the child is born with the full form of the recessive trait. The best indicator of risk is a family member with PFK deficiency.
1966:
899:
469:
Treatment usually entails that the patient refrain from strenuous exercise to prevent muscle pain and cramping. Avoiding carbohydrates is also recommended.
1982:
345:(platelet). The combination of these subunits varies depending on the tissue in question. In this condition, a deficiency of the M subunit (PFKM) of the
1583:
1514:
1094:
Harvey, J.W.; Smith, J.E. (June 1994). "Haematology and
Clinical Chemistry of English Springer Spaniel Dogs with Phosphofructokinase Deficiency".
536:
Tarui S, OKuno G, Ikura Y, Tanaka T, Suda M, Nishikawa M (1965). "Phosphofructokinase
Deficiency In Skeletal Muscle. A New Type Of Glycogenosis".
1349:
275:
Presentation of the canine form of the disease is similar to that of the human form. Most notably, PFK deficient dogs have mild, but persistent,
2047:
477:
PFKM enzymes. This has not been widely studied enough to prove if it is a viable treatment, but testing is continuing to explore this option.
1893:
769:
242:
Phosphofructokinase deficiency also presents in a rare infantile form. Infants with this deficiency often display floppy infant syndrome (
1416:
1938:
1214:; Korson, Mark (December 1997). "Infantile phosphofructokinase deficiency with arthrogryposis: Clinical benefit of a ketogenic diet".
234:, weakness and fatigue. Many of the more severe symptoms found in the classic type of this disease are absent in the late-onset form.
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Symptoms of phosphofructokinase deficiency can closely resemble those of other metabolic diseases, include deficiencies of
1882:
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2016:
222:, which can lead to a jaundiced appearance. Symptoms for this type of PFK deficiency usually appear in early childhood.
32:
1323:"Frequency of Phosphofructokinase (PFK) Deficiency in English Springer Spaniels: A Longitudinal and Randomized Study"
489:(brand name Pyrukynd) may improve symptoms by stimulating pyruvate kinase, another enzyme in the glycolytic pathway.
1274:"Hemolysis, myopathy, and cardiac disease associated with hereditary phosphofructokinase deficiency in two Whippets"
1898:
1510:
377:
1958:
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form of the gene should be removed from the breeding population, in order to reduce incidence of the condition.
1971:
1683:
1524:
1427:
306:
807:"Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog"
380:
which is the rate limiting step in the glycolysis pathway. Inhibition of this step prevents the formation of
1604:
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422:
310:
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1593:
381:
162:
2003:
1903:
1653:
951:
Layzer, Robert; Rowland, Lewis; Ranney, Helen (November 1967). "Muscle
Phosphofructokinase Deficiency".
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750:
686:
373:
121:
1559:
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1405:
346:
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321:. Mixed-breed dogs descended from any of these breeds are also at risk to inherit PFK deficiency.
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880:
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Stedman, H.; Stedman, H; Rajpurohit, Y; Henthorn, PS; Wolfe, JH; Patterson, DF; Giger, U (1996).
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to determine whether or not a person is a carrier of the mutated gene is also available.
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Gerber, Karen; Harvey, John; D'Agorne, Sara; Wood, Jonathan; Giger, Urs (March 2009).
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1998:
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Glycogen storage disease type 7; Muscle phosphofructokinase deficiency; Tarui disease
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Proceedings of the
National Academy of Sciences of the United States of America
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368:) for energy. Unlike most other glycogen storage diseases, it directly affects
2010:
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868:
822:
438:
369:
158:
154:
915:
805:
Inal
Gultekin, G; Raj, K; Lehman, S; Hillstrom, A; Giger, U (December 2012).
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1004:
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1035:
Vora, Shobhana; Giger, Urs; Turchen, Steven; Harvey, John (December 1985).
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372:. The mutation impairs the ability of phosphofructokinase to phosphorylate
1344:
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588:
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330:
231:
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Giger, U; Kimmel, A; Overlery, D; Schwartz, B; Smith, B; Rajpurohit, Y.
1857:
1710:
1623:
1533:
1107:
365:
314:
161:. Therefore, all products past the block would be deficient, including
97:
656:
604:"Molecular Basis of Canine Muscle Type Phosphofructokinase Deficiency"
2020:
1878:
1619:
1390:
453:
441:. Thus, proper diagnosis is important to determine a treatment plan.
349:
276:
169:
987:
711:"Tarui disease and distal glycogenoses: clinical and genetic update"
1210:
Swoboda, Kathryn; Specht, Linda; Jones, Royden; Shapiro, Frederic;
443:
1914:
1421:
342:
338:
334:
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15:
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condition. Patients also commonly display elevated levels of
1835:(Pompe's disease, glucosidase deficiency, formerly GSD-IIa)
900:"Phosphofructokinase deficiency; past, present and future"
305:
Canine phosphofructokinase deficiency is found mostly in
1946:(von Gierke's disease, glucose 6-phosphatase deficiency)
1791:(Hers' disease, liver glycogen phosphorylase deficiency)
40:
293:
In order to get Tarui's disease, both parents must be
898:
Nakajima H, Raben N, Hamaguchi T, Yamasaki T (2002).
180:(b. 1927), who first observed the condition in 1965.
37:
In particular, it has problems with not using MEDMOS.
2015:
Fatal congenital nonlysosomal cardiac glycogenosis (
1368:
213:
is common, due to the kidneys' inability to process
1991:
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Muscle pain, exercise intolerance, hemolytic anemia
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109:
81:
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1890:(Tarui's disease, phosphofructokinase deficiency)
1740:(Andersen's disease, branching enzyme deficiency)
408:PFK deficiency is believed to be the result of a
333:enzyme that consists of three types of subunits:
1797:(McArdle's disease, myophosphorylase deficiency)
1327:English Springer Spaniel Field Trial Association
1179:The Swedish Information Center for Rare Diseases
1785:(Cori's disease, debranching enzyme deficiency)
926:. Archived from the original on April 14, 2013.
770:"Glycogen Storage Diseases (Glycogenoses; GSD)"
157:. The lack of PFK blocks the completion of the
1251:"Mitapivat for phosphofructokinase deficiency"
988:"Mutations in muscle phosphofructokinase gene"
704:
702:
700:
1495:
176:). It was named after the Japanese physician
8:
1967:Glucose-6-phosphate dehydrogenase deficiency
1983:6-phosphogluconate dehydrogenase deficiency
1199:. National Organization for Rare Disorders.
953:Journal of the American Medical Association
1866:
1770:
1719:
1638:
1628:
1541:
1502:
1488:
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120:
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1915:Mitochondrial pyruvate carrier deficiency
1297:
1070:
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1003:
830:
726:
619:
452:A diagnosis can be made through a muscle
59:Learn how and when to remove this message
2043:Inborn errors of carbohydrate metabolism
1584:Inborn errors of renal tubular transport
511:
929:
788:"Phosphofructokinase Deficiency (PFK)"
751:"Phosphofructokinase (PFK) deficiency"
709:Toscano A, Musumeci O (October 2007).
209:causing dark urine a few hours later.
168:It may affect humans as well as other
1096:Comparative Haematology International
757:. University of Prince Edward Island.
400:phosphofructokinase enzyme function.
352:impairs the ability of cells such as
7:
1894:Triosephosphate isomerase deficiency
1841:(LAMP2 deficiency, formerly GSD-IIb)
1132:Journal of the Neurological Sciences
965:10.1001/archneur.1967.00470290066009
1908:Phosphoglucose isomerase deficiency
1809:(PGM1-CDG, CDG1T, formerly GSD-XIV)
1249:Al-Samkari, Hanny (July 23, 2024).
1193:"Glycogen Storage Disease Type VII"
755:Canine Inherited Disorders Database
687:"Glycogen Storage Disease Type VII"
1939:Fructose bisphosphatase deficiency
1911:Phosphoglycerate kinase deficiency
693:. US National Library of Medicine.
14:
1803:(phosphorylase kinase deficiency)
86:Glycogen storage disease type VII
1833:Glycogen storage disease type II
1343:
1290:10.1111/j.1939-165X.2008.00089.x
313:, but has also been reported in
20:
1934:Pyruvate carboxylase deficiency
1744:Adult polyglucosan body disease
1579:Glucose-galactose malabsorption
608:Journal of Biological Chemistry
360:(skeletal muscle cells) to use
1734:(glycogen synthase deficiency)
1350:Phosphofructokinase deficiency
1255:American Journal of Hematology
986:Raben, N; Sherman, JB (1995).
571:Kloos, M; Straeter, N (2014).
142:Phosphofructokinase deficiency
77:Phosphofructokinase deficiency
31:comply with Knowledge (XXG)'s
29:This article needs editing to
1:
2048:Autosomal recessive disorders
1807:Phosphoglucomutase deficiency
1278:Veterinary Clinical Pathology
1228:10.1016/s0022-3476(97)70048-9
811:Molecular and Cellular Probes
794:. University of Pennsylvania.
538:Biochem. Biophys. Res. Commun
2017:AMP-activated protein kinase
550:10.1016/0006-291X(65)90156-7
1181:. University of Gothenburg.
376:prior to its cleavage into
2064:
1979:(Transketolase deficiency)
1899:Pyruvate kinase deficiency
378:glyceraldehyde-3-phosphate
1959:Pentose phosphate pathway
1525:glycogen storage diseases
1216:The Journal of Pediatrics
1144:10.1016/j.jns.2012.01.027
936:: CS1 maint: unfit URL (
869:10.1016/j.nmd.2011.10.022
823:10.1016/j.mcp.2012.02.004
329:Phosphofructokinase is a
307:English Springer Spaniels
104:
95:
1972:Transaldolase deficiency
916:10.2174/1566524024605734
645:Pediatrics International
621:10.1074/jbc.271.33.20070
311:American Cocker Spaniels
1757:(glycogenin deficiency)
1605:Fanconi-Bickel syndrome
1515:carbohydrate metabolism
1062:10.1073/pnas.82.23.8109
1005:10.1002/humu.1380060102
857:Neuromuscular Disorders
691:Genetics Home Reference
427:phosphoglycerate mutase
423:phosphoglycerate kinase
1594:Fructose malabsorption
449:
382:adenosine triphosphate
163:Adenosine triphosphate
2004:Primary hyperoxaluria
1904:Aldolase A deficiency
1654:Essential fructosuria
1521:metabolism disorders
1197:Rare Disease Database
447:
431:lactate dehydrogenase
413:PFKM in those cells.
386:adenosine diphosphate
1659:Fructose intolerance
1555:Congenital alactasia
1352:at Wikimedia Commons
792:PennGen Laboratories
774:Mount Sinai Hospital
374:fructose-6-phosphate
1560:Sucrose intolerance
1053:1985PNAS...82.8109V
614:(33): 20070–20074.
589:10.2210/pdb4omt/pdb
347:phosphofructokinase
150:autosomal recessive
144:is a rare muscular
41:improve the content
1607:(GLUT2 deficiency)
1601:(GLUT1 deficiency)
1454:External resources
1212:DiMauro, Salvatore
1173:Ronquist, Gunnar.
1108:10.1007/BF00368272
577:Acta Crystallogr F
450:
207:haemolytic anaemia
205:, as well as with
159:glycolytic pathway
155:glycolytic process
146:metabolic disorder
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1917:(MPC1 deficiency)
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1348:Media related to
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657:10.1111/ped.12616
410:nonsense mutation
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1693:GALE deficiency
1689:GALT deficiency
1684:GALK deficiency
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178:Seiichiro Tarui
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33:Manual of Style
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992:Human Mutation
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904:Curr. Mol. Med
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768:Kassir, Kari.
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326:
323:
302:
299:
290:
287:
285:
282:
272:
269:
263:
262:Hemolytic form
260:
256:cardiomyopathy
252:encephalopathy
248:arthrogryposis
239:
238:Infantile form
236:
227:
224:
198:
195:
190:
187:
185:
182:
137:
136:
133:
127:
126:
113:
107:
106:
102:
101:
93:
92:
83:
79:
78:
70:
67:
66:
28:
26:
19:
13:
10:
9:
6:
4:
3:
2:
2060:
2049:
2046:
2044:
2041:
2040:
2038:
2022:
2018:
2014:
2012:
2009:
2005:
2002:
2001:
2000:
1999:Hyperoxaluria
1997:
1996:
1994:
1990:
1984:
1981:
1978:
1975:
1973:
1970:
1968:
1965:
1964:
1962:
1960:
1956:
1945:
1942:
1940:
1937:
1935:
1932:
1931:
1929:
1927:
1923:
1916:
1913:
1910:
1907:
1905:
1902:
1900:
1897:
1895:
1892:
1889:
1886:
1884:
1880:
1877:
1876:
1874:
1872:
1868:
1865:
1863:
1859:
1855:
1840:
1839:Danon disease
1837:
1834:
1831:
1830:
1828:
1824:
1820:
1815:
1808:
1805:
1802:
1799:
1796:
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1769:
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1708:
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1403:
1399:
1397:
1393:
1392:
1388:
1384:
1383:
1380:
1375:
1371:
1365:
1364:Rare Diseases
1362:'s Office of
1361:
1357:
1354:
1351:
1346:
1342:
1341:
1337:
1328:
1324:
1317:
1314:
1309:
1305:
1300:
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1279:
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1188:
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1169:
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1125:
1122:
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1090:
1087:
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1073:
1068:
1063:
1058:
1054:
1050:
1046:
1042:
1038:
1031:
1028:
1023:
1019:
1015:
1011:
1006:
1001:
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993:
989:
982:
979:
974:
970:
966:
962:
958:
954:
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944:
939:
933:
925:
921:
917:
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909:
905:
901:
894:
891:
886:
882:
878:
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862:
858:
850:
847:
842:
838:
833:
828:
824:
820:
816:
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808:
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798:
793:
789:
783:
780:
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771:
764:
761:
756:
752:
746:
743:
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734:
729:
724:
720:
716:
712:
705:
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701:
697:
692:
688:
682:
679:
674:
670:
666:
662:
658:
654:
650:
646:
639:
636:
631:
627:
622:
617:
613:
609:
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598:
595:
590:
586:
582:
578:
574:
567:
564:
559:
555:
551:
547:
543:
539:
532:
529:
526:
525:Who Named It?
522:
521:
515:
512:
505:
503:
499:
492:
490:
488:
484:
482:
478:
475:
470:
464:
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436:
432:
428:
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416:
414:
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403:
401:
398:
391:
389:
387:
383:
379:
375:
371:
367:
363:
362:carbohydrates
359:
355:
351:
348:
344:
340:
336:
332:
324:
322:
320:
316:
312:
308:
300:
298:
296:
288:
283:
281:
278:
270:
268:
261:
259:
257:
253:
249:
245:
237:
235:
233:
225:
223:
221:
216:
212:
211:Hyperuricemia
208:
204:
203:myoglobinuria
196:
194:
188:
183:
181:
179:
175:
171:
166:
164:
160:
156:
151:
147:
143:
134:
132:
128:
123:
117:
116:Endocrinology
114:
112:
108:
103:
99:
94:
91:
87:
84:
80:
75:
63:
60:
52:
42:
36:
34:
27:
18:
17:
2019:deficiency,
1888:GSD type VII
1887:
1783:GSD type III
1724:Glycogenesis
1674:galactosemia
1546:Disaccharide
1511:Inborn error
1461:
1437:
1426:
1415:
1400:
1385:
1326:
1316:
1284:(1): 46–51.
1281:
1277:
1267:
1258:
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1244:
1219:
1215:
1205:
1196:
1187:
1178:
1168:
1135:
1131:
1124:
1102:(2): 70–75.
1099:
1095:
1089:
1044:
1040:
1030:
995:
991:
981:
956:
952:
946:
932:cite journal
907:
903:
893:
860:
856:
849:
814:
810:
800:
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782:
773:
763:
754:
745:
718:
714:
690:
681:
648:
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638:
611:
607:
597:
580:
576:
566:
541:
537:
531:
518:
514:
500:
496:
485:
479:
471:
468:
451:
435:beta-enolase
420:
407:
395:
354:erythrocytes
328:
319:Wachtelhunds
304:
292:
284:Risk factors
274:
265:
241:
229:
200:
197:Classic form
192:
184:Presentation
172:(especially
167:
141:
140:
89:
85:
55:
49:October 2021
46:
39:Please help
30:
1801:GSD type IX
1789:GSD type VI
1755:GSD type XV
1738:GSD type IV
1536:, transport
583:: 578–582.
384:(ATP) from
82:Other names
2037:Categories
2011:Pentosuria
1944:GSD type I
1871:Glycolysis
1795:GSD type V
1732:GSD type 0
1635:catabolism
1548:catabolism
1523:Including
1439:DiseasesDB
998:(1): 1–6.
506:References
465:Management
439:aldolase A
370:glycolysis
331:tetrameric
148:, with an
1819:Lysosomal
1670:Galactose
1572:transport
1463:eMedicine
715:Acta Myol
520:synd/3022
487:Mitapivat
474:ketogenic
417:Diagnosis
392:In humans
364:(such as
337:(liver),
289:In humans
244:hypotonia
220:bilirubin
215:uric acid
189:In humans
111:Specialty
1715:glycogen
1644:Fructose
1308:19228357
1160:19654051
1152:22364848
1116:25755199
1022:46649815
924:11949936
885:20133199
877:22133655
841:22446493
737:18421897
673:13064914
665:26108272
558:14339001
315:Whippets
295:carriers
232:myopathy
131:Symptoms
1858:Glucose
1711:Glucose
1624:glucose
1534:Sucrose
1468:med/913
1433:D006014
1299:2692053
1236:9427905
1081:2933748
1049:Bibcode
1014:7550225
973:4228297
855:VII)".
832:3485442
728:2949577
630:8702726
493:In dogs
404:In dogs
366:glucose
301:In dogs
271:In dogs
170:mammals
165:(ATP).
2021:PRKAG2
1879:MODY 2
1746:(APBD)
1620:Hexose
1422:232800
1306:
1296:
1234:
1158:
1150:
1114:
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1072:391452
1069:
1020:
1012:
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875:
839:
829:
735:
725:
671:
663:
628:
573:"4OMT"
556:
454:biopsy
350:enzyme
277:anemia
118:
1992:Other
1977:SDDHD
1527:(GSD)
1411:271.0
1396:E74.0
1261:(10).
1156:S2CID
1112:S2CID
1018:S2CID
881:S2CID
669:S2CID
1883:HHF3
1444:5314
1428:MeSH
1417:OMIM
1406:9-CM
1304:PMID
1232:PMID
1148:PMID
1077:PMID
1010:PMID
969:PMID
938:link
920:PMID
873:PMID
837:PMID
733:PMID
661:PMID
626:PMID
554:PMID
437:and
356:and
343:PFKP
339:PFKM
335:PFKL
317:and
309:and
254:and
174:dogs
1862:CAC
1823:LSD
1513:of
1402:ICD
1387:ICD
1360:NIH
1358:at
1294:PMC
1286:doi
1224:doi
1220:131
1140:doi
1136:316
1104:doi
1067:PMC
1057:doi
1000:doi
961:doi
912:doi
865:doi
827:PMC
819:doi
723:PMC
653:doi
616:doi
612:271
585:doi
546:doi
523:at
246:),
88:or
2039::
1860:⇄
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1713:⇄
1672:/
1622:→
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699:^
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