phosphofructokinase deficiency(redirected from Glycogen storage disease type 7)
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phosphofructokinase deficiencyAbbreviation: 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