| Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective. | |
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MedLine Citation:
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PMID: 16763904 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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:
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William J Rhead |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: 29 ISSN: 1573-2665 ISO Abbreviation: J. Inherit. Metab. Dis. Publication Date: 2006 Apr-Jun |
Date Detail:
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Created Date: 2006-06-09 Completed Date: 2007-01-09 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: Netherlands |
Other Details:
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Languages: eng Pagination: 370-7 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA. wrhead@mcw.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acyl-CoA Dehydrogenase
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deficiency*,
genetics Carnitine / analogs & derivatives, blood Genetic Testing* Genotype Humans Incidence Infant, Newborn Lipid Metabolism, Inborn Errors / blood, diagnosis*, enzymology, epidemiology Mutation Neonatal Screening* Predictive Value of Tests Questionnaires Sensitivity and Specificity Tandem Mass Spectrometry* Time Factors World Health* |
| Chemical | |
Reg. No./Substance:
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3671-77-0/octanoylcarnitine; 541-15-1/Carnitine; EC 1.3.99.3/Acyl-CoA Dehydrogenase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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