Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective. J Inherit Metab Dis 2006;29(2-3):370-7
Date
06/10/2006Pubmed ID
16763904DOI
10.1007/s10545-006-0292-1Scopus ID
2-s2.0-33745098087 (requires institutional sign-in at Scopus site) 84 CitationsAbstract
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.
Author List
Rhead WJAuthor
William Rhead MD, PhD Adjunct Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Acyl-CoA DehydrogenaseCarnitine
Genetic Testing
Genotype
Global Health
Humans
Incidence
Infant, Newborn
Lipid Metabolism, Inborn Errors
Mutation
Neonatal Screening
Predictive Value of Tests
Sensitivity and Specificity
Surveys and Questionnaires
Tandem Mass Spectrometry
Time Factors
