Medium-Chain Acyl-CoA Dehydrogenase Deficiency
- 17 November 1988
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 319 (20) , 1308-1313
- https://doi.org/10.1056/nejm198811173192003
Abstract
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, one of the most common inherited metabolic disorders, is often mistaken for the sudden infant death syndrome or Reye's syndrome. Diagnosing it has been difficult because of a lack of fast and reliable diagnostic methods. We developed a stable-isotope dilution method to measure urinary n-hexanoylglycine, 3-phenylpropionylglycine, and suberylglycine, and we retrospectively tested its accuracy in diagnosing MCAD deficiency.This publication has 29 references indexed in Scilit:
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