释义 |
DictionarySeedeficiencyphosphofructokinase deficiency
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 diseaseSee also: deficiencyLegalSeeDeficiencyAcronymsSeePFKM |