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

doi:10.1067/mpd.2002.130259

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

Pathology

Research output: Contribution to journal › Article › peer-review

39 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 language	English (US)
Pages (from-to)	833-836
Number of pages	4
Journal	Journal of Pediatrics
Volume	141
Issue number	6
DOIs	https://doi.org/10.1067/mpd.2002.130259
State	Published - Dec 1 2002

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1067/mpd.2002.130259

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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.",

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AU - Steiner, Robert D.

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AB - 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.

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

Abstract

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