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Phosphofructokinase deficiency



Phosphofructokinase deficiency
Classification & 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], is a metabolic disorder with autosomal recessive inheritance, in which 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. It may affects humans as well as other mammals (especially dogs). In humans it is the least common type of glycogen storage disease.

Additional recommended knowledge

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.

References

  1. ^ synd/3022 at Who Named It


 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Phosphofructokinase_deficiency". A list of authors is available in Wikipedia.
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