PrepTutorEJDIC
- 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/06/18 14:22:24」(JST)
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| Phosphofructokinase deficiency |
| Classification and external resources |
| ICD-10 |
E74.0 |
| ICD-9 |
271.0 |
| OMIM |
232800 |
| DiseasesDB |
5314 |
| eMedicine |
med/913 |
| MeSH |
D006014 |
Phosphofructokinase deficiency, also known as Glycogen storage disease type VII or Tarui's disease,[1][2] is metabolic disorder with autosomal recessive inheritance.
It may affect humans as well as other mammals (especially dogs).[3] In humans it is the least common type of glycogen storage disease. It was named after the Japanese Physician, Seiichiro Tarui (1927- ), who was a native of Hyogo Prefecture in Japan.
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Contents
- 1 Pathophysiology
- 2 Presentation
- 3 Diagnosis
- 4 See also
- 5 References
- 6 External links
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Pathophysiology
In this condition, a deficiency of the M subunit (PFKM) of the phosphofructokinase enzyme impairs the ability of cells such as erythrocytes and rhabdomyocytes to use carbohydrates (such as glucose) for energy.
The mutation impairs the ability of phosphofructokinase to phosphorylate fructose-6-phosphate prior to its cleavage into glyceraldehyde-3-phosphate which enters the energy generation phase of glycolysis, effectively limiting energy production.
Unlike most other glycogen storage diseases, it directly affects glycolysis.[4]
Presentation
The disease presents with exercise-induced muscle cramps and weakness (sometimes rhabdomyolysis), myoglobinuria, as well as with haemolytic anaemia causing dark urine a few hours later. Hyperuricemia is common.[5] Phosphofructokinase deficiency also presents in a rare infantile form. The infantile form causes severe myopathy and leads to death in infancy or early childhood.
Diagnosis
Other deficiency diseases with similar signs and symptoms include deficiencies of phosphoglycerate kinase, phosphoglycerate mutase, lactate dehydrogenase, beta-enolase and aldolase A.[5]
A diagnosis can be made through a muscle biopsy that shows excess glycogen and then further tests that will show the levels of phosphofructokinase enzyme.
See also
References
- ^ synd/3022 at Who Named It?
- ^ Tarui S, OKuno G, Ikura Y, Tanaka T, Suda M, Nishikawa M (1965). "Phosphofructokinase Deficiency In Skeletal Muscle. A New Type Of Glycogenosis". Biochem. Biophys. Res. Commun. 19 (4): 517–23. DOI:10.1016/0006-291X(65)90156-7. PMID 14339001.
- ^ Stedman, H.; Stedman, H; Rajpurohit, Y; Henthorn, PS; Wolfe, JH; Patterson, DF; Giger, U (1996). "Molecular Basis of Canine Muscle Type Phosphofructokinase Deficiency". Journal of Biological Chemistry 271 (33): 20070. DOI:10.1074/jbc.271.33.20070. PMID 8702726. http://www.jbc.org/cgi/pmidlookup?view=long&pmid=8702726.
- ^ Nakajima H, Raben N, Hamaguchi T, Yamasaki T (2002). "Phosphofructokinase deficiency; past, present and future". Curr. Mol. Med. 2 (2): 197–212. DOI:10.2174/1566524024605734. PMID 11949936. http://www.bentham-direct.org/pages/content.php?CMM/2002/00000002/00000002/0009M.SGM.
- ^ a b Toscano A, Musumeci O (October 2007). "Tarui disease and distal glycogenoses: clinical and genetic update". Acta Myol 26 (2): 105–7. PMC 2949577. PMID 18421897. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2949577.
External links
- Glycogen storage disease type 7; Muscle phosphofructokinase deficiency; Tarui disease at NIH's Office of Rare Diseases
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Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (including glycogen storage diseases) (E73–E74, 271)
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Sucrose, transport
(extracellular) |
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Disaccharide catabolism
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Lactose intolerance · Sucrose intolerance
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Monosaccharide transport
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Glucose-galactose malabsorption · Inborn errors of renal tubular transport (Renal glycosuria) · Fructose malabsorption
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| Hexose → glucose |
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Monosaccharide catabolism
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fructose: Essential fructosuria · Fructose intolerance
galactose/galactosemia : GALK deficiency · GALT deficiency/GALE deficiency
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| Glucose ⇄ glycogen |
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Glycogenesis
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GSD type 0, glycogen synthase · GSD type IV, Andersen's, branching
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Glycogenolysis
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extralysosomal: GSD type V, McArdle, muscle glycogen phosphorylase/GSD type VI, Hers', liver glycogen phosphorylase · GSD type III, Cori's, debranching
lysosomal/LSD: GSD type II, Pompe's, glucosidase
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| Glucose ⇄ CAC |
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Glycolysis
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MODY 2/HHF3 · GSD type VII, Tarui's, phosphofructokinase · Triosephosphate isomerase deficiency · Pyruvate kinase deficiency
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Gluconeogenesis
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PCD · Fructose bisphosphatase deficiency · GSD type I, von Gierke, glucose 6-phosphatase
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| Pentose phosphate pathway |
Glucose-6-phosphate dehydrogenase deficiency · Transaldolase deficiency
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| Other |
Hyperoxaluria (Primary hyperoxaluria) · Pentosuria
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mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m
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k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon
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m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)
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UpToDate Contents
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English Journal
- TIGAR regulates glycolysis in ischemic kidney proximal tubules.
- Kim J1, Devalaraja-Narashimha K2, Padanilam BJ3.
- American journal of physiology. Renal physiology.Am J Physiol Renal Physiol.2015 Feb 15;308(4):F298-308. doi: 10.1152/ajprenal.00459.2014. Epub 2014 Dec 10.
- Tp53-induced glycolysis and apoptosis regulator (TIGAR) activation blocks glycolytic ATP synthesis by inhibiting phosphofructokinase-1 activity. Our data indicate that TIGAR is selectively induced and activated in renal outermedullary proximal straight tubules (PSTs) after ischemia-reperfusion injur
- PMID 25503731
Japanese Journal
- Infantile phosphofructokinase deficiency with arthogryposis; clinical benefit of a ketogenic diet
- Improvement of Hemolysis in Muscle Phosphofructokinase Deficiency by Restriction of Exercise
- Muscle phosphofructokinase deficiency in two generations
Related Links
- ESSFTA: Disclaimer Phosphofructokinase (PFK) deficiency is an inherited disease that affects both the field trial and show lines of English Springer Spaniels. M-PFK is an enzyme required for the metabolism of glucose into useable ...
- Phosphofructokinase Deficiency Dogs imperative rate-regulating compound glycolysis, metabolic pathway coverts glucose pyruvate discharging vigor ... Phosphofructokinase Deficiency in Dogs is the most imperative rate-regulating ...
Related Pictures
★リンクテーブル★
[★]
- 英
- phosphofructokinase deficiency
- 同
- PFK欠損症 PFK deficiency
[★]
筋ホスホフルクトキナーゼ欠損症
- 関
- glycogen storage disease type VII、Tarui disease
[★]
- 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
- 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの
- 関
- absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve
[★]
ホスホフルクトキナーゼ