Journal of Inherited Metabolic Disease

, Volume 29, Issue 2–3, pp 370–377 | Cite as

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



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.


Carnitine Congenital Adrenal Hyperplasia Newborn Screening Neonatal Screening Electrospray Tandem Mass Spectrometry 
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© SSIEM and Springer 2006

Authors and Affiliations

  1. 1.Departments of Pediatrics and PathologyMedical College of WisconsinMilwaukeeUSA

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