Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency.

Journal Article (Journal Article)

In order to determine which are useful early diagnostic markers for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, we have analysed urine from an asymptomatic neonate. Profiling of urinary organic acids followed by peak confirmation by electron impact mass spectrometry revealed a high suberate/adipate ratio (greater than 1.0) and the presence of n-hexanoylglycine (HG). Acylcarnitine analysis by fast atom bombardment mass spectrometry (FAB-MS) was inconclusive, but FAB-MS/MS (tandem mass spectrometry) revealed diagnostic amounts of octanoylcarnitine and hexanoylcarnitine. Quantitative analysis of acylglycines by stable isotope dilution and chemical ionization mass spectrometry revealed a 30-fold increase in HG and increased suberylglycine, but no increase in 3-phenylpropionylglycine.

Full Text

Duke Authors

Cited Authors

  • Bennett, MJ; Coates, PM; Hale, DE; Millington, DS; Pollitt, RJ; Rinaldo, P; Roe, CR; Tanaka, K

Published Date

  • 1990

Published In

Volume / Issue

  • 13 / 5

Start / End Page

  • 707 - 715

PubMed ID

  • 2246856

International Standard Serial Number (ISSN)

  • 0141-8955

Digital Object Identifier (DOI)

  • 10.1007/BF01799572


  • eng

Conference Location

  • United States