Carnitine metabolism and inborn errors

A. G. Engel, C. J. Rebouche

Research output: Contribution to journalArticle

113 Scopus citations

Abstract

Current knowledge of the metabolic role, biosynthesis, cellular uptake, excretion and turnover of carnitine is reviewed. The clinical spectrum and possible aetiology of the primary muscle and primary systemic carnitine deficiency syndromes are considered and the various genetic defects of intermediary metabolism which can give rise to secondary carnitine deficiency are indicated.

Original languageEnglish (US)
Pages (from-to)38-43
Number of pages6
JournalJournal of inherited metabolic disease
Volume7
Issue number1 Supplement
DOIs
StatePublished - Mar 1 1984

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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