Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.
作者： William J. Rhead
DOI: 10.1007/S10545-006-0292-1
关键词: Congenital adrenal hyperplasia 、 Genetics 、 Biology 、 Genotype 、 Endocrinology 、 Internal medicine 、 Newborn screening 、 Medium-Chain Acyl-CoA Dehydrogenase Deficiency 、 Carnitine 、 Compound heterozygosity 、 ACADM 、 MCADD
摘要: 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 2- to-3 fold higher than that identified same populations after clinical presentation. In mass-screened newborn populations, 985A>G (K329E) mutation accounts for 54–90% disease alleles, with homozygotes representing about 47–80% MCAD cases. Worldwide, octanoylcarnitine levels are an effective primary screen newborns. Newborns homozygous 985A < G have do those compound heterozygous other genotypes. Time sampling birth also significantly affects MCAD-deficient Tandem screening accurate effective, reduces morbidity mortality, merits expansion to worldwide.
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