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
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