phosphofructokinase deficiency
(redirected from Glycogen storage disease type 7)phosphofructokinase deficiency
Abbreviation: PFKMA 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 diseaseSee also: deficiency
Medical Dictionary, © 2009 Farlex and Partners