FAMILIAL RECURRENT RHABDOMYOLYSIS DUE TO CARNITINE PALMITYL TRANSFERASE DEFICIENCY

Muscle carnitine palmityl transferase (CPT) activity was very low (0-14% of controls) in 2 brothers with a syndrome of recurrent rhabdomyolysis and myoglobulinuria. In isolated muscle mitochondria the majority (87.5%) of total measurable CPT enzyme activity was attributed to external membrane CPT with severe deficiency of inner membrane CPT. Control mitochondria demonstrated a 1:1 distribution of external membrane CPT to inner membrane CPT. Myoglobinuria may be due to a generic defect of lipid metabolism in skeletal muscle, with inner membrane CPT deficiency presenting the same clinical features as external membrane CPT deficiency.