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

K. B. Leydiker, J. A. Neidich, F. Lorey, E. M. Barr, R. L. Puckett, R. M. Lobo, J. E. Abdenur

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7 Scopus citations


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.

Original languageEnglish
Pages (from-to)92-95
Number of pages4
JournalMolecular genetics and metabolism
Issue number1
StatePublished - May 1 2011
Externally publishedYes


  • Expanded newborn screening
  • Maternal
  • Maternal inborn error of metabolism
  • Medium-chain acyl-CoA dehydrogenase deficiency
  • Tandem mass spectrometry

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