Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency

Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency

Elpeleg ON; Joseph A; Branski D; Christensen E; Holme E; Demaugre F; Saudubray JM; Gutman A

The Journal Of Pediatrics

1993

Child; Humans; Male; Preschool; Q3 Literature Search; Recurrence; Fatty Acids/metabolism; Lymphocytes/metabolism; Carnitine O-Palmitoyltransferase/deficiency/metabolism; Creatine Kinase/metabolism; Energy Intake; Liver/enzymology; Transaminases/metabolism

A 3-year-old boy had recurrent 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.

1993

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