Phosphofructokinase deficiency

Phosphofructokinase deficiency
ICD-10	E74.0
ICD-9	271.0
OMIM	232800
DiseasesDB	5314
MeSH	D006014

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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Synonyms and Keywords: Glycogenosis type 7; Tarui disease; glycogen storage disease type 7; glycogen storage disease type VII

Overview

Phosphofructokinase deficiency, 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.

Symptoms

The disease presents with exercise-induced muscle cramps and weakness (sometimes rhabdomyolysis), as well as with hemolytic anemia causing dark urine a few hours later.