A Nationwide Retrospective Observational Study Of Population Newborn Screening For Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency In The Netherlands

PURPOSE: To evaluate the Dutch newborn screening (NBS) for Medium-Chain Acyl-CoA Dehydrogenase (MCAD) deficiency since 2007. METHODS: A nationwide retrospective, observational study of clinical, laboratory and epidemiological parameters of patients with MCAD deficiency born between 2007-2015. Severe MCAD deficiency was defined by ACADM genotypes associated with clinical ascertainment, or variant ACADM genotypes with a residual MCAD enzyme activity < 10 %. Mild MCAD deficiency was defined by variant ACADM genotypes with a residual MCAD enzyme activity ≥ 10%. RESULTS: The prevalence of MCAD d... Mehr ...