Postmortem screening for fatty acid oxidation disorders by analysis of Guthrie cards with tandem mass spectrometry in sudden unexpected death in infancy.
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.
Wilcox
Rebecca L
RL
Department of Pathology, Oregon Health Sciences University, Portland 97201, USA.
Nelson
Cliff C
CC
Stenzel
Peter
P
Steiner
Robert D
RD
D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D005227:Fatty Acids / Q000378:metabolism*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013058:Mass Spectrometry; D013398:Sudden Infant Death / Q000209:etiology* / Q000473:pathology
D005227:Fatty Acids; D044942:Acyl-CoA Dehydrogenase, Long-Chain