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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.
Rhead, William J.
Afiliação
  • Rhead WJ; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA. wrhead@mcw.edu
J Inherit Metab Dis ; 29(2-3): 370-7, 2006.
Article em En | MEDLINE | ID: mdl-16763904
ABSTRACT
As judged by tandem mass spectrometry blood spot screening, the incidence of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is 114 600 (CI 95% 113 500-115 900) 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.
Assuntos
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Coleções: 01-internacional Contexto em Saúde: 2_ODS3 / 6_ODS3_enfermedades_notrasmisibles / 7_ODS3_muertes_prevenibles_nacidos_ninos Base de dados: MEDLINE Assunto principal: Testes Genéticos / Saúde Global / Triagem Neonatal / Acil-CoA Desidrogenase / Espectrometria de Massas em Tandem / Erros Inatos do Metabolismo Lipídico Tipo de estudo: Diagnostic_studies / Incidence_studies / Prognostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2006 Tipo de documento: Article
Buscar no Google
Coleções: 01-internacional Contexto em Saúde: 2_ODS3 / 6_ODS3_enfermedades_notrasmisibles / 7_ODS3_muertes_prevenibles_nacidos_ninos Base de dados: MEDLINE Assunto principal: Testes Genéticos / Saúde Global / Triagem Neonatal / Acil-CoA Desidrogenase / Espectrometria de Massas em Tandem / Erros Inatos do Metabolismo Lipídico Tipo de estudo: Diagnostic_studies / Incidence_studies / Prognostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2006 Tipo de documento: Article