A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands
- Jager, E.A.
- Kuijpers, M.M.
- van den Bosch, A.M.
- Mulder, M.F.
- Gozalbo, ER
- Visser, G.
- Boersma - de Vries, M.
- Williams, M. (Martine)
- Waterham, H.R.
- Spronsen, F.J. van
- Schielen, P.
- Derks, T.G.J. (Terry G J)
DOIAbstract
To evaluate the Dutch newborn screening (NBS) for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency since 2007, a nationwide retrospective, observational study was performed of clinical, laboratory and epidemiological parameters of patients with MCAD deficiency born between 2007 and 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%. The prevalence of MCAD deficiency was 1/8300 (95% CI: 1/7300-1/9600). Sensitivity of the Dutch NBS was 99% and specificity ~100%, with a positive predictive value of 86%. Thirteen new...
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