{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T01:48:04Z","timestamp":1784944084283,"version":"3.55.0"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,5,7]],"date-time":"2021-05-07T00:00:00Z","timestamp":1620345600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Early detection of congenital disorders by newborn screening (NBS) programs is essential to prevent or limit disease manifestation in affected neonates. These programs balance between the detection of the highest number of true cases and the lowest number of false\u2010positives. In this case report, we describe four unrelated cases with a false\u2010positive NBS result for very\u2010long\u2010chain acyl\u2010CoA dehydrogenase deficiency (VLCADD). Three neonates presented with decreased but not deficient VLCAD enzyme activity and two of them carried a single heterozygous <jats:italic>ACADVL<\/jats:italic> c.1844G&gt;A mutation. Initial biochemical investigations after positive NBS referral in these infants revealed acylcarnitine and organic acid profiles resembling those seen in multiple acyl\u2010CoA dehydrogenase deficiency (MADD). Genetic analysis did not reveal any pathogenic mutations in the genes encoding the electron transfer flavoprotein (ETF alpha and beta subunits) nor in ETF dehydrogenase. Subsequent further diagnostics revealed decreased levels of riboflavin in the newborns and oral riboflavin administration normalized the MADD\u2010like biochemical profiles. During pregnancy, the mothers followed a vegan, vegetarian or lactose\u2010free diet which probably caused alimentary riboflavin deficiency in the neonates. This report demonstrates that a secondary (alimentary) maternal riboflavin deficiency in combination with reduced VLCAD activity in the newborns can result in an abnormal VLCADD\/MADD acylcarnitine profile and can cause false\u2010positive NBS. We hypothesize that maternal riboflavin deficiency contributed to the false\u2010positive VLCADD neonatal screening results.<\/jats:p>","DOI":"10.1002\/jmd2.12223","type":"journal-article","created":{"date-parts":[[2021,5,8]],"date-time":"2021-05-08T22:28:56Z","timestamp":1620512936000},"page":"12-18","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Abnormal <scp>VLCADD<\/scp> newborn screening resembling <scp>MADD<\/scp> in four neonates with decreased riboflavin levels and <scp>VLCAD<\/scp> activity"],"prefix":"10.1002","volume":"61","author":[{"given":"Marne C.","family":"Hagemeijer","sequence":"first","affiliation":[{"name":"Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics Erasmus University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esmee","family":"Oussoren","sequence":"additional","affiliation":[{"name":"Center for Lysosomal and Metabolic Diseases, Department of Pediatrics Erasmus University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George J. 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