| Literature DB >> 8501570 |
O N Elpeleg1, A Joseph, D Branski, E Christensen, E Holme, F Demaugre, J M Saudubray, A Gutman.
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.Entities:
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Year: 1993 PMID： 8501570 DOI： 10.1016/s0022-3476(09)90019-1
Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406