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Case Reports
. 1993 Jun;122(6):917-9.
doi: 10.1016/s0022-3476(09)90019-1.

Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency

O N Elpeleg  1 , A Joseph, D Branski, E Christensen, E Holme, F Demaugre, J M Saudubray, A Gutman
Affiliations
Case Reports

Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency

O N Elpeleg et al. J Pediatr. 1993 Jun.

Abstract

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.

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