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

Publication ,  Journal Article
Millington, DS; Roe, CR; Maltby, DA
Published in: Biomed Environ Mass Spectrom
December 1987

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.

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Published In

Biomed Environ Mass Spectrom

DOI

ISSN

0887-6134

Publication Date

December 1987

Volume

14

Issue

12

Start / End Page

711 / 716

Location

England

Related Subject Headings

  • Mass Spectrometry
  • Humans
  • Glutarates
  • Gas Chromatography-Mass Spectrometry
  • Carnitine
  • Acyltransferases
  • Acidosis
  • Acetyl-CoA C-Acyltransferase
 

Citation

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Millington, D. S., Roe, C. R., & Maltby, D. A. (1987). Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry. Biomed Environ Mass Spectrom, 14(12), 711–716. https://doi.org/10.1002/bms.1200141204
Millington, D. S., C. R. Roe, and D. A. Maltby. “Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry.Biomed Environ Mass Spectrom 14, no. 12 (December 1987): 711–16. https://doi.org/10.1002/bms.1200141204.
Millington, D. S., et al. “Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry.Biomed Environ Mass Spectrom, vol. 14, no. 12, Dec. 1987, pp. 711–16. Pubmed, doi:10.1002/bms.1200141204.

Published In

Biomed Environ Mass Spectrom

DOI

ISSN

0887-6134

Publication Date

December 1987

Volume

14

Issue

12

Start / End Page

711 / 716

Location

England

Related Subject Headings

  • Mass Spectrometry
  • Humans
  • Glutarates
  • Gas Chromatography-Mass Spectrometry
  • Carnitine
  • Acyltransferases
  • Acidosis
  • Acetyl-CoA C-Acyltransferase