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

Publication ,  Journal Article
Bennett, MJ; Coates, PM; Hale, DE; Millington, DS; Pollitt, RJ; Rinaldo, P; Roe, CR; Tanaka, K
Published in: J Inherit Metab Dis
1990
Published version (DOI) Link to item

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.

Duke Scholars

David Stuart Millington
Author David Stuart Millington Pediatrics, Medical Genetics

Published In

J Inherit Metab Dis

DOI

10.1007/BF01799572

ISSN

0141-8955

Publication Date

1990

Volume

13

Issue

5

Start / End Page

707 / 715

Location

United States

Related Subject Headings

  • Trimethylsilyl Compounds
  • Male
  • Infant, Newborn
  • Humans
  • Glycine
  • Genetics & Heredity
  • Genetic Markers
  • Gas Chromatography-Mass Spectrometry
  • Dicarboxylic Acids
  • Creatinine
 

Citation

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Bennett, M. J., Coates, P. M., Hale, D. E., Millington, D. S., Pollitt, R. J., Rinaldo, P., … Tanaka, K. (1990). Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis, 13(5), 707–715. https://doi.org/10.1007/BF01799572
Bennett, M. J., P. M. Coates, D. E. Hale, D. S. Millington, R. J. Pollitt, P. Rinaldo, C. R. Roe, and K. Tanaka. “Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency.” J Inherit Metab Dis 13, no. 5 (1990): 707–15. https://doi.org/10.1007/BF01799572.
Bennett MJ, Coates PM, Hale DE, Millington DS, Pollitt RJ, Rinaldo P, et al. Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 1990;13(5):707–15.
Bennett, M. J., et al. “Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency.” J Inherit Metab Dis, vol. 13, no. 5, 1990, pp. 707–15. Pubmed, doi:10.1007/BF01799572.
Bennett MJ, Coates PM, Hale DE, Millington DS, Pollitt RJ, Rinaldo P, Roe CR, Tanaka K. Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 1990;13(5):707–715.
Journal cover image

Published In

J Inherit Metab Dis

DOI

10.1007/BF01799572

ISSN

0141-8955

Publication Date

1990

Volume

13

Issue

5

Start / End Page

707 / 715

Location

United States

Related Subject Headings

  • Trimethylsilyl Compounds
  • Male
  • Infant, Newborn
  • Humans
  • Glycine
  • Genetics & Heredity
  • Genetic Markers
  • Gas Chromatography-Mass Spectrometry
  • Dicarboxylic Acids
  • Creatinine