Carnitine deficiency in inborn errors of metabolism

B. A. Sela, T. Lerman-Sagie, M. Berkovitz

Research output: Contribution to journalArticlepeer-review


Several conditions, considered as inborn errors of metabolism, involve severe deficiencies in carnitine in both plasma and muscle. In the absence of evidence suggesting primary carnitine deficiency due to a biosynthetic enzymatic defect in the liver, the various diseases with carnitine deficiency are related to genetic defects in organic acid metabolism leading to blocked mitochondrial beta oxidation. We describe a 4.5-year-old boy and 2 female infants with glutaric aciduria type I, isovaleric acidemia, and long-chain acid dehydrogenase deficiency, in whom severe carnitine deficiency was apparent. In all 3, long-term carnitine treatment proved to be vital and eliminated most of the symptoms.

Original languageEnglish
Pages (from-to)419-423, 504
Issue number10
StatePublished - 16 Nov 1997
Externally publishedYes


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