RECURRENT METABOLIC DECOMPENSATION IN PROFOUND CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY

Authors
ELPELEG ON JOSEPH A BRANSKI D CHRISTENSEN E HOLME E DEMAUGRE F SAUDUBRAY JM GUTMAN A
Citation
On. Elpeleg et al., RECURRENT METABOLIC DECOMPENSATION IN PROFOUND CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY, The Journal of pediatrics, 122(6), 1993, pp. 917-919
Citations number
10
Categorie Soggetti
Pediatrics
Journal title
The Journal of pediatrics → ACNP
ISSN journal
00223476
Volume
122
Issue
6
Year of publication
1993
Pages
917 - 919
Database
ISI
SICI code
0022-3476(1993)122:6<917:RMDIPC>2.0.ZU;2-I
Abstract
A 3-year-old boy had recurrent episodes of lethargy, encephalopathy, a nd hepatomegaly accompanied by hypoglycemia, elevated liver aminotrans ferase and creatine kinase values, and nonketotic dicarboxylic aciduri a; the serum carnitine level was moderately reduced. Carnitine palmito yltransferase 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.