Encephalopathy and fatal myopathy in two siblings. Their association with partial deficiency of muscle carnitine
D. Parker, A. W. Root, S. Schimmel, M. Andriola and S. DiMauro
Two brothers had intermittent episodes of muscle weakness, lethargy,
hyperammonemia, rhabdomyolysis, and elevated activities of creatine
phosphokinase (CPK), lactic dehydrogenase, and SGOT in serum associated
with low muscle carnitine but normal serum carnitine concentrations. These
siblings represent a "mixed" form of carnitine deficiency with the elements
of both systemic and myopathic carnitine deficiency. The older sibling died
suddenly after a 24-hour fast. The younger boy has received carnitine for
three years. During this period, serum CPK activity has remained elevated
and increased further during illnesses, but no clinical symptoms of
encephalopathy or myopathy have appeared.
