Postmortem screening for fatty acid oxidation disorders by analysis of Guthrie cards with tandem mass spectrometry in sudden unexpected death in infancy

Rebecca L. Wilcox, Cliff C. Nelson, Peter Stenzel, Robert D. Steiner

Research output: Contribution to journalArticle

37 Scopus citations

Abstract

A protocol was developed for the detection of fatty acid oxidation disorders (FOD) in cases of sudden unexpected death in infancy (SUDI). Tandem mass spectrometry blood acylcarnitine analysis of Guthrie card blood spots was performed. In the first 5 years, 1.2% of Oregon's 247 SUDI cases were identified with FOD, 2 with medium-chain acyl-CoA dehydrogenase deficiency, and one with very long-chain acyl-CoA dehydrogenase deficiency.

Original languageEnglish (US)
Pages (from-to)833-836
Number of pages4
JournalJournal of Pediatrics
Volume141
Issue number6
DOIs
StatePublished - Dec 1 2002

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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