phosphofructokinase deficiency


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phosphofructokinase deficiency

Abbreviation: PFKM
A glycogen storage disease caused by a deficiency of muscle phosphofructokinase and characterized by muscular weakness, and muscle cramps after exercise, hemolysis, hyperuricemia, and myoglobinuria.
Synonym: glycogen storage disease type VII; Tarui disease
See also: deficiency
References in periodicals archive ?
Fujii H, Miwa S: Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency.
Massa R, Lodi R, Barbiroli B, et al: Partial block of glycolysis in late-onset phosphofructokinase deficiency myopathy.
Fogelfeld L, Sarova-Pinchas I, Meytes D, et al: Phosphofructokinase deficiency (Tarui disease) associated with hepatic glucuronyltransferase deficiency (Gilbert's syndrome): a case and family study.

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