Late-onset muscle phosphofructokinase deficiency

Abstract

A 75-year-old man had a 10-year history of slowly progressive limb weakness without cramps or myoglobinuria. Clinical, morphologic, and biochemical studies showed muscle phosphofructokinase (PFK) deficiency. Erythrocyte PFK activity in his asymptomatic daughter was 63% of normal, compatible with a carrier state. The chronic myopathic variant of muscle PFK deficiency appears to be transmitted as an autosomal recessive trait and may be due to a distinct genetic defect.