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Mol Genet Metab. 2011 May;103(1):92-5. doi: 10.1016/j.ymgme.2011.01.011. Epub 2011 Jan 27.

Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening.

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  • 1Division of Metabolic Disorders, CHOC Children's, 455 S. Main St., Orange, CA 92868, USA.

Abstract

Prior to the advent of expanded newborn screening, sudden and unexplained death was often the first and only symptom of medium-chain acyl-CoA dehydrogenase deficiency (MCADD). With the use of tandem mass spectrometry, infants can now be identified and treated before a life threatening metabolic decompensation occurs. Newborn screening has also been shown to detect previously undiagnosed maternal inborn errors of metabolism. We have now diagnosed two women with MCADD following the identification of low free carnitine in their newborns. While one of the women reported prior symptoms of fasting intolerance, neither had a history of metabolic decompensation or other symptoms consistent with a fatty acid oxidation disorder. These cases illustrate the importance of including urine organic acid analysis and an acylcarnitine profile as part of the confirmatory testing algorithm for mothers when low free carnitine is identified in their infants.

Copyright © 2011. Published by Elsevier Inc.

PMID:
21354840
[PubMed - indexed for MEDLINE]
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