Phosphofructokinase deficiency
- Phosphofructokinase deficiency
Infobox_Disease
Name = PAGENAME
Caption =
DiseasesDB = 5314
ICD10 = ICD10|E|74|0|e|70
ICD9 = ICD9|271.0
ICDO =
OMIM = 232800
MedlinePlus =
eMedicineSubj = med
eMedicineTopic = 913
MeshID = D006014
Phosphofructokinase deficiency, also known as Glycogen storage disease type VII or Tarui's disease, [WhoNamedIt|synd|3022] [cite journal |author=Tarui S, OKuno G, Ikura Y, Tanaka T, Suda M, Nishikawa M |title=Phosphofructokinase Deficiency In Skeletal Muscle. A New Type Of Glycogenosis |journal=Biochem. Biophys. Res. Commun. |volume=19 |issue= |pages=517–23 |year=1965 |pmid=14339001 |doi= |url=] is metabolic disorder with autosomal recessive inheritance.]It may affect humans as well as other mammals (especially dogs).[cite journal |pmid=8702726 |url=http://www.jbc.org/cgi/pmidlookup?view=long&pmid=8702726 |doi=10.1074/jbc.271.33.20070 |title=Molecular Basis of Canine Muscle Type Phosphofructokinase Deficiency |year=1996 |author=Stedman, H. |journal=Journal of Biological Chemistry |volume=271 |pages=20070] In humans it is the least common type of glycogen storage disease.]Pathophysiology
In this condition, a deficiency of the M subunit of the phosphofructokinase enzyme impairs the ability of cells such as erythrocytes and rhabdomyocytes to use carbohydrates (such as glucose) for energy.
Unlike most other glycogen storage diseases, it directly affects glycolysis.[cite journal |author=Nakajima H, Raben N, Hamaguchi T, Yamasaki T |title=Phosphofructokinase deficiency; past, present and future |journal=Curr. Mol. Med. |volume=2 |issue=2 |pages=197–212 |year=2002 |pmid=11949936 |doi= |url=http://www.bentham-direct.org/pages/content.php?CMM/2002/00000002/00000002/0009M.SGM] ]Presentation
The disease presents with exercise-induced muscle cramps and weakness (sometimes rhabdomyolysis), as well as with haemolytic anaemia causing dark urine a few hours later.
ee also
* PFKM
* Seiichiro Tarui
References
External Links
*RareDiseases|5686|Glycogen storage disease type 7; Muscle phosphofructokinase deficiency; Tarui disease
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