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

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 deco...

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Bibliographic Details
Published in:	Molecular genetics and metabolism Vol. 103; no. 1; pp. 92 - 95
Main Authors:	Leydiker, K.B., Neidich, J.A., Lorey, F., Barr, E.M., Puckett, R.L., Lobo, R.M., Abdenur, J.E.
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 01-05-2011
Subjects:	Acyl-CoA Dehydrogenase - deficiency Acyl-CoA Dehydrogenase - genetics Carnitine - blood Carnitine - urine Expanded newborn screening Female Homozygote Humans Infant, Newborn Lipid Metabolism, Inborn Errors - diagnosis Lipid Metabolism, Inborn Errors - diet therapy Lipid Metabolism, Inborn Errors - genetics Maternal Maternal inborn error of metabolism MCADD Medium-chain acyl-CoA dehydrogenase deficiency Mutation - genetics Neonatal Screening Phenotype Tandem Mass Spectrometry Maternal Tandem mass spectrometry Expanded newborn screening Maternal inborn error of metabolism Medium-chain acyl-CoA dehydrogenase deficiency MCADD
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Summary:	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.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 ObjectType-Article-2 ObjectType-Feature-1
ISSN:	1096-7192 1096-7206
DOI:	10.1016/j.ymgme.2011.01.011