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July 1982

Encephalopathy and Fatal Myopathy in Two SiblingsTheir Association With Partial Deficiency of Muscle Carnitine

Author Affiliations

From the Department of Pediatrics, University of South Florida College of Medicine, Tampa (Drs Parker, Root, Schimmel, and Andriola); the All Children's Hospital, St Petersburg, Fla (Drs Root and Andriola); and the Department of Neurology, Columbia University College of Physicians and Surgeons, New York (Dr DiMauro).

Am J Dis Child. 1982;136(7):598-601. doi:10.1001/archpedi.1982.03970430030008

• 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.

(Am J Dis Child 1982;136:598-601)