Analysis of abnormal urinary metabolites in the newborn period in medium‐chain acyl‐CoA dehydrogenase deficiency
- 2 October 1989
- journal article
- research article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 13 (5), 707-715
- https://doi.org/10.1007/bf01799572
Abstract
Summary: 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.This publication has 22 references indexed in Scilit:
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