Diagnosis of medium chain acyl-CoA dehydrogenase deficiency by stable isotope dilution analysis of urinary acylglycines: retrospective and prospective studies, and comparison of its accuracy to acylcarnitine identification by FAB/mass spectrometry.

P. Rinaldo, J. J. O'Shea, R. D. Welch, K. Tanaka

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

In summary, we have demonstrated that the accurate quantitation of urinary HG and PPG by stable isotope dilution analysis is currently the most reliable method for the diagnosis of MCAD deficiency. This method is particularly useful for testing random samples from asymptomatic patients without any provocative test, and it is suitable to widely survey a fairly large population, such as patients with episodic manifestations and families with a history of SIDS.

Original languageEnglish (US)
Pages (from-to)411-418
Number of pages8
JournalProgress in clinical and biological research
Volume321
StatePublished - 1990
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)

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