Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry.

Journal Article (Journal Article)

Direct analysis of unpurified urine from patients with beta-ketothiolase deficiency and glutaryl-coenzyme A dehydrogenase deficiency was carried out by methylation and fast atom bombardment mass spectrometry. Previously unidentified signals consistent with unusual acylcarnitines were detected. In the former disease, thermospray liquid chromatography/mass spectrometry analysis confirmed the identification of tiglylcarnitine and differentiated it from a biological isomer, 3-methylcrotonylcarnitine. In glutaric aciduria, glutarylcarnitine was confirmed by detection of glutaric acid liberated upon base hydrolysis of a purified acylcarnitine fraction. The discovery of these metabolites suggests that L-carnitine therapy might be beneficial for the enhanced excretion of toxic metabolites that accumulate in patients with these disorders.

Full Text

Duke Authors

Cited Authors

  • Millington, DS; Roe, CR; Maltby, DA

Published Date

  • December 1987

Published In

Volume / Issue

  • 14 / 12

Start / End Page

  • 711 - 716

PubMed ID

  • 3435793

International Standard Serial Number (ISSN)

  • 0887-6134

Digital Object Identifier (DOI)

  • 10.1002/bms.1200141204


  • eng

Conference Location

  • England