Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency

A 3-year-old boy had recurrenl episodes of lethargy, encephalopathy, and hepatomegaly accompanied by hypoglycemia, elevated liver aminotransferase and creatine kinase values, and nonketotic dicarboxylic aciduria; the serum carnitine level was moderately reduced. Carnitine palmitoyltransferase II activity was decreased in lymphocytes and fibroblasts. Therapy with L -carnitine and a diet low in long-chain triglycerides did not prevent recurrent episodes.