3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency.

Journal Article (Journal Article)

A new acylcarnitine was observed in the plasma and urine of a patient with isolated 3-methylcrotonyl-CoA carboxylase deficiency. Analysis by tandem mass spectrometry of the methyl ester and butyl ester and their fragment ion spectra identified it as a 3-hydroxy-C5-acylcarnitine. Fibroblasts from a second patient were incubated with deuterium-labelled leucine. Incorporation of label in the new acylcarnitine identified its origin from leucine, and thus confirmed the structure as 3-hydroxyisovalerylcarnitine. The presence of elevated amounts of this metabolite, plus a small amount of 3-methylcrotonylcarnitine in plasma, was diagnostic for isolated 3-methylcrotonyl-CoA carboxylase deficiency. Other conditions in which a hydroxy-C5-acylcarnitine was present were readily differentiated by the abnormal elevation of other acylcarnitines.

Full Text

Duke Authors

Cited Authors

  • van Hove, JL; Rutledge, SL; Nada, MA; Kahler, SG; Millington, DS

Published Date

  • 1995

Published In

Volume / Issue

  • 18 / 5

Start / End Page

  • 592 - 601

PubMed ID

  • 8598640

International Standard Serial Number (ISSN)

  • 0141-8955

Digital Object Identifier (DOI)

  • 10.1007/BF02436004


  • eng

Conference Location

  • United States