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
Language
- eng
Conference Location
- England