caa a22 4500 467933057 CHVBK 20180406152949.0 cr unu---uuuuu 170328e20060401xx s 000 0 eng 10.1007/s10545-006-0292-1 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0292-1 Rhead William Departments of Pediatrics and Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA aut Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: A global perspective [Elektronische Daten] [William Rhead] Summary: 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. SSIEM and Springer, 2006 Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/2-3(2006-04-01), 370-377 0141-8955 29:2-3<370 2006 29 10545 https://doi.org/10.1007/s10545-006-0292-1 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0292-1 text/html Onlinezugriff via DOI NATIONALLICENCE 100 1- Rhead William Departments of Pediatrics and Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/2-3(2006-04-01), 370-377 0141-8955 29:2-3<370 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer