Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency

Title

Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency

Creator

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

Publisher

The Journal Of Pediatrics

Date

1993

Subject

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

Description

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

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Type

Journal Article

Citation List Month

Backlog

Pages

917-919

Issue

6

Volume

122

Citation

Elpeleg ON; Joseph A; Branski D; Christensen E; Holme E; Demaugre F; Saudubray JM; Gutman A, “Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency,” Pediatric Palliative Care Library, accessed October 20, 2021, https://pedpalascnetlibrary.omeka.net/items/show/12260.

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