Skeletal muscle from four dogs with.erythrocyte phosphofructokinase (PFK; EC 2.7.1.11) deficiency were studied in vitro. Muscle PFK activities were severely decreased to 1 % of the normal mean. The residual activities had a high Km for fructose-6-phosphate (F6P). Anaerobic lactate production of PFK-deflcient muscle was minimal with the addition of glycogen and hexosemonophosphates, but was normal with fructose-1,6-diphosphate (FDP). Muscle glycogen concentration was twice normal, indicating a glycogen storage disorder. Histochemical studies for muscle PFK activity showed no enzymatic staining with F6P as substrate. In two muscle biopsies from asymptomatic related dogs, intermediate PFK activities were found. These data characterize canine muscle PFK deficiency in vitro.
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