Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency

C. A. Stanley, F. Sunaryo, D. E. Hale, J. P. Bonnefont, F. Demaugre, J. M. Saudubray

Research output: Contribution to journalArticle

32 Scopus citations

Abstract

In a boy with a defect in fatty acid oxidation due to the hepatic form of carnitine palmitoyltransferase-1 deficiency, plasma carnitine concentrations were found to be twice normal. The elevation in plasma carnitine levels was accompanied by an unusually high renal threshold for free carnitine, suggesting a secondary increase in carnitine transport. Similar to other fatty acid oxidation disorders involving the carnitine cycle, urinary dicarboxylic acids were not abnormally elevated during illnesses. The combination of elevated plasma carnitine levels and absence of dicarboxylic aciduria may help to distinguish the hepatic form of carnitine palmitoyltransferase-1 deficiency from other defects in fatty acid oxidation.

Original languageEnglish (US)
Pages (from-to)785-789
Number of pages5
JournalJournal of Inherited Metabolic Disease
Volume15
Issue number5
DOIs
StatePublished - Sep 1992
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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