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A Forensic Marker for a Genetic Disease Often Misdiagnosed as Sudden Infant Death Syndrome (SIDS)

Sudden Infant Death (SIDS) has been associated with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, an inborn error of fatty acid oxidation. Blood and tissue samples from a large cohort of SIDS victims were analyzed for the presence of dodecanoic acid (Cā‚ā‚‚) by gas chromatography. A subgroup of these cases had a significantly higher blood concentration than age-matched controls, suggesting MCAD deficiency. An animal study using Sprague-Dawley rats was done to mimic the effects of MCAD deficiency. Significantly increased blood concentrations of dodecanoic acid were observed. Decreased values in heart and liver were puzzling findings. The data indicate that dodecanoic acid is a blood marker for MCAD deficiency.

Identiferoai:union.ndltd.org:unt.edu/info:ark/67531/metadc500567
Date12 1900
CreatorsKemp, Philip M. (Philip Marcus)
ContributorsWimbish, Gary H., Bost, Robert, Lacko, Andras G., Norton, S. J.
PublisherUniversity of North Texas
Source SetsUniversity of North Texas
LanguageEnglish
Detected LanguageEnglish
TypeThesis or Dissertation
Formatv, 58 leaves: ill., Text
RightsPublic, Kemp, Philip M. (Philip Marcus), Copyright, Copyright is held by the author, unless otherwise noted. All rights reserved.

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