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

Research output: Contribution to journalArticle

19 Citations (Scopus)

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

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Fast Atom Bombardment Mass Spectrometry
Mass Spectrometry
Tandem Mass Spectrometry
Urine
Electrons
Acids
N-caproylglycine
Medium chain acyl CoA dehydrogenase deficiency
hexanoylcarnitine
octanoylcarnitine
acylcarnitine
adipic acid
3-phenylpropionylglycine
suberylglycine

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Bennett, M. J. ; Coates, P. M. ; Hale, Daniel ; Millington, D. S. ; Pollitt, R. J. ; Rinaldo, P. ; Roe, C. R. ; Tanaka, K. / Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency. In: Journal of Inherited Metabolic Disease. 1990 ; Vol. 13, No. 5. pp. 707-715.
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Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency. / Bennett, M. J.; Coates, P. M.; Hale, Daniel; Millington, D. S.; Pollitt, R. J.; Rinaldo, P.; Roe, C. R.; Tanaka, K.

In: Journal of Inherited Metabolic Disease, Vol. 13, No. 5, 01.09.1990, p. 707-715.

Research output: Contribution to journalArticle

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AU - Bennett, M. J.

AU - Coates, P. M.

AU - Hale, Daniel

AU - Millington, D. S.

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AU - Rinaldo, P.

AU - Roe, C. R.

AU - Tanaka, K.

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AB - 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.

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