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

M. J. Bennett, P. M. Coates, Daniel Hale, D. S. Millington, R. J. Pollitt, P. Rinaldo, C. R. Roe, K. Tanaka

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Abstract

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 (>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 istotope dilution and chemical ionization mass spectrometry revealed a 30-fold increase in HG and increased suberylglycine, but no increase in 3-phenylpropionylglycine.

Original languageEnglish (US)
Pages (from-to)707-715
Number of pages9
JournalJournal of Inherited Metabolic Disease
Volume13
Issue number5
DOIs
StatePublished - Sep 1 1990

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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    Bennett, M. J., Coates, P. M., Hale, D., Millington, D. S., Pollitt, R. J., Rinaldo, P., Roe, C. R., & Tanaka, K. (1990). Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency. Journal of Inherited Metabolic Disease, 13(5), 707-715. https://doi.org/10.1007/BF01799572