@article{032f65d2f9b6426d92e35c1e6ddb3fd4,
title = "A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands",
abstract = "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 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 newborns with MCAD deficiency suffered from neonatal symptoms, three of them died. Of the 189 identified neonates, 24% had mild MCAD deficiency. The acylcarnitine ratio octanoylcarnitine (C8)/decanoylcarnitine (C10) was superior to C8 in discriminating between mild and severe cases and more stable in the first days of life. NBS for MCAD deficiency has a high sensitivity, specificity, and positive predictive value. In the absence of a golden standard to confirm the diagnosis, the combination of acylcarnitine (ratios), molecular and enzymatic studies allows risk stratification. To improve evaluation of NBS protocols and clinical guidelines, additional use of acylcarnitine ratios and multivariate pattern-recognition software may be reappraised in the Dutch situation. Prospective recording of NBS and follow-up data is warranted covering the entire health care chain of preventive and curative medicine.",
keywords = "acylcarnitine, inborn errors of metabolism, medium-chain acyl-CoA dehydrogenase deficiency, neonatal screening, prevalence, INBORN-ERRORS, BLOOD SPOTS, DIAGNOSIS, OCTANOYLCARNITINE, PERFORMANCE, PREVALENCE, METABOLISM, DISORDERS, CHILDREN, COENZYME",
author = "Jager, {Emmalie A.} and Kuijpers, {Myrthe M.} and Bosch, {Annet M.} and Mulder, {Margot F.} and Gozalbo, {Estela R.} and Gepke Visser and {de Vries}, Maaike and Monique Williams and Waterham, {Hans R.} and {van Spronsen}, {Francjan J.} and Schielen, {Peter C. J. I.} and Derks, {Terry G. J.}",
note = "Funding Information: Population NBS programs require close collaboration between professionals in both preventive and curative health care. Therefore, the authors of this manuscript acknowledge all professionals in the Netherlands, who are—in whatever way—responsible for this collaboration and who share their responsibilities to improve the outcomes of newborns after NBS. Moreover the authors would like to especially thank C.M. Touw for her help in data retrieval. E.J. conceptualized and designed the retrospective cohort study, coordinated and performed data collection, performed data analysis and interpretation, drafted and revised the manuscript. M.K. conceptualized and designed the retrospective cohort study, coordinated and performed data collection, contributed to data analysis and critically reviewed the manuscript. A.B., M.M., E.G., G.V., M.V., M.W., H.W., and F.S. contributed to data collection and critically reviewed the manuscript. P.S. designed the retrospective cohort study, coordinated data collection, supervised data analysis and interpretation and critically reviewed the manuscript. T.D. conceptualized and designed the retrospective cohort study, coordinated data collection, supervised data analysis and interpretation, drafted and revised the manuscript. All authors approved the final manuscript submitted. Publisher Copyright: {\textcopyright} 2019 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM",
year = "2019",
month = sep,
doi = "10.1002/jimd.12102",
language = "English",
volume = "42",
pages = "890--897",
journal = "Journal of Inherited Metabolic Disease",
issn = "0141-8955",
publisher = "Wiley",
number = "5",
}