In vitro analysis of hepatic carnitine biosynthesis in human systemic carnitine deficiency

C. J. Rebouche, Andrew G Engel

Research output: Contribution to journalArticle

22 Scopus citations


The syndrome of systemic carnitine deficiency (progressive muscle weakness, recurrent metabolic encephalopathy, low liver and muscle and fluctuating serum carnitine levels) has been attributed to a defect of carnitine biosynthesis. The authors determined activities in liver of the four enzymes which convert ε-N-trimethyl-L-lysine to L-carnitine in three patients with systemic carnitine deficiency and in 12 control subjects. In the three patients all enzyme activities were within the normal range except one, which was slightly below the normal range. They conclude that in systemic carcinitine deficiency no enzymatic defect exists in the conversion of ε-N-trimethyl-L-lysine to carnitine.

Original languageEnglish (US)
Pages (from-to)295-300
Number of pages6
JournalClinica Chimica Acta
Issue number3
StatePublished - 1980


ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry

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