Primary Carnitine Deficiency Due to a Failure of Carnitine Transport in Kidney, Muscle, and Fibroblasts

William R. Treem, Charles A. Stanley, David N. Finegold, Daniel E. Hale, Paul M. Coates

Research output: Contribution to journalArticlepeer-review

241 Scopus citations

Abstract

CARNITINE (β-hydroxy-γ-trimethylaminobutyric acid) is an essential cofactor for the oxidation of fatty acids by mitochondria. It serves to carry long-chain fatty acids in the form of their acyl-carnitine esters across the barrier of the inner mitochondrial membrane before β-oxidation. Since 1973,1 a total of 46 patients have been described with evidence of impaired fatty acid oxidation associated with reduced levels of carnitine.2 These patients have been divided into a group with a “systemic carnitine deficiency,” which presents in infancy or early childhood with recurrent episodes of coma and hypoglycemia, and a group with a “muscle carnitine deficiency,” which presents later.

Original languageEnglish (US)
Pages (from-to)1331-1336
Number of pages6
JournalNew England Journal of Medicine
Volume319
Issue number20
DOIs
StatePublished - Nov 17 1988

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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