Carnitine deficiency in inborn errors of metabolism

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

Research output: Contribution to journalArticlepeer-review

Abstract

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
JournalHarefuah
Volume133
Issue number10
StatePublished - 16 Nov 1997
Externally publishedYes

Fingerprint

Dive into the research topics of 'Carnitine deficiency in inborn errors of metabolism'. Together they form a unique fingerprint.

Cite this