Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands

摘要: The G985A mutation represents about 90% of all medium-chain acyl-CoA dehydrogenase (MCAD) allele mutations that cause the clinical symptoms MCAD deficiency. prevalence carriers varies between different European populations, with high frequencies in northwestern part Europe. To determine Netherlands, we collected 6195 Guthrie cards newborns. Mutation detection was performed polymerase chain reaction (PCR), which a NcoI restriction site created presence PCR product, followed by digestion, and gel electrophoresis. We detected carrier frequency 1 59 (95% CI 1/50–1/73) Netherlands. total estimated to be 55 1/46– 1/68), based on relative 94%