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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: A global perspective

  • SSIEM SYMPOSIUM 2005
  • Published:
Journal of Inherited Metabolic Disease

Summary

As judged by tandem mass spectrometry blood spot screening, the incidence of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is 1:14 600 (CI 95%: 1:13 500–1:15 900) in almost 8.2 million newborns worldwide and is 2- to-3 fold higher than that identified in the same populations after clinical presentation. In mass-screened newborn populations, the 985A>G (K329E) mutation accounts for 54–90% of disease alleles, with homozygotes representing about 47–80% of MCAD deficiency cases. Worldwide, octanoylcarnitine levels are an effective primary screen for MCAD deficiency in newborns. Newborns homozygous for the 985A < G mutation have higher octanoylcarnitine levels than do those compound heterozygous for 985A < G and those with other genotypes. Time of sampling after birth also significantly affects octanoylcarnitine levels in MCAD-deficient newborns. Tandem mass spectrometry newborn blood spot screening for MCAD deficiency is accurate and effective, reduces morbidity and mortality, and merits expansion to other populations worldwide.

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Authors and Affiliations

  1. Departments of Pediatrics and Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA

    William J. Rhead

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  1. William J. Rhead
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Correspondence to William J. Rhead.

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Communicating editor: Jean-Marie Saudubray

Competing interests: None declared

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Rhead, W.J. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: A global perspective. J Inherit Metab Dis 29, 370–377 (2006). https://doi.org/10.1007/s10545-006-0292-1

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  • DOI: https://doi.org/10.1007/s10545-006-0292-1

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