Document Detail

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.
MedLine Citation:
PMID:  16763904     Owner:  NLM     Status:  MEDLINE    
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.
William J Rhead
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  29     ISSN:  1573-2665     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:    2006 Apr-Jun
Date Detail:
Created Date:  2006-06-09     Completed Date:  2007-01-09     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  370-7     Citation Subset:  IM    
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
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MeSH Terms
Acyl-CoA Dehydrogenase / deficiency*,  genetics
Carnitine / analogs & derivatives,  blood
Genetic Testing*
Infant, Newborn
Lipid Metabolism, Inborn Errors / blood,  diagnosis*,  enzymology,  epidemiology
Neonatal Screening*
Predictive Value of Tests
Sensitivity and Specificity
Tandem Mass Spectrometry*
Time Factors
World Health*
Reg. No./Substance:
3671-77-0/octanoylcarnitine; 541-15-1/Carnitine; EC Dehydrogenase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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