{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T18:13:23Z","timestamp":1788545603487,"version":"build-2803163510"},"reference-count":42,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T00:00:00Z","timestamp":1788480000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int. J. Neonatal Screen.","IJNS"],"abstract":"<jats:p>Classical homocystinuria (HCY) due to cystathionine beta-synthase (CBS) deficiency is included in many newborn screening programs, which traditionally use dried blood spot (DBS) methionine as the primary biomarker. However, some patients have normal or only mildly elevated methionine in the neonatal period, leading to false-negative results. We report a four-month-old male infant referred for sagittal craniosynostosis, whose metabolic evaluation revealed markedly elevated plasma methionine and total homocysteine concentrations. Genetic analysis identified a homozygous, pathogenic variant (c.1007G&gt;A) in the CBS gene, confirming HCY. On retrospective review, the DBS sample had been collected at 48 h of life, and methionine was within the reference range. Consequently, the screening algorithm had not triggered second-tier total homocysteine testing. Sanger sequencing of the original DBS sample confirmed the same homozygous CBS variant, ruling out sample swap and establishing the case as a true false-negative result. Treatment with pyridoxine and folic acid rapidly normalized biochemical parameters, consistent with a pyridoxine-responsive phenotype. This case illustrates that normal neonatal methionine does not exclude CBS deficiency and that genomic newborn screening approaches could detect this disease more reliably.<\/jats:p>","DOI":"10.3390\/ijns12030073","type":"journal-article","created":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T17:25:56Z","timestamp":1788542756000},"page":"73","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Classical Homocystinuria Incidentally Diagnosed Following a Normal Newborn Screening Result"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7622-417X","authenticated-orcid":false,"given":"Jos\u00e9 Manuel","family":"Gonz\u00e1lez de Aledo-Castillo","sequence":"first","affiliation":[{"name":"Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, CDB, Hospital Cl\u00ednic de Barcelona, 08036 Barcelona, Spain"},{"name":"Fundaci\u00f3 de Recerca 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Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), ISCIII, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Meavilla Olivas","sequence":"additional","affiliation":[{"name":"Pediatrics, Gastroenterology, Hepatology and Nutrition, Sant Joan de D\u00e9u Hospital, 08950 Esplugues de Llobregat, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4746-1034","authenticated-orcid":false,"given":"Laura","family":"Gort","sequence":"additional","affiliation":[{"name":"Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, CDB, Hospital Cl\u00ednic de Barcelona, 08036 Barcelona, Spain"},{"name":"Fundaci\u00f3 de Recerca Cl\u00ednic Barcelona, Institut d\u2019Investigacions Biom\u00e8diques August Pi i Sunyer (FRCB-IDIBAPS), 08036 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras 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Mar\u00eda","family":"L\u00f3pez-Galera","sequence":"additional","affiliation":[{"name":"Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, CDB, Hospital Cl\u00ednic de Barcelona, 08036 Barcelona, Spain"},{"name":"Fundaci\u00f3 de Recerca Cl\u00ednic Barcelona, Institut d\u2019Investigacions Biom\u00e8diques August Pi i Sunyer (FRCB-IDIBAPS), 08036 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6069-7370","authenticated-orcid":false,"given":"Ana","family":"Argudo-Ram\u00edrez","sequence":"additional","affiliation":[{"name":"Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, CDB, Hospital Cl\u00ednic de Barcelona, 08036 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2540-2578","authenticated-orcid":false,"given":"Jaime","family":"Sainz de Medrano","sequence":"additional","affiliation":[{"name":"Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, CDB, Hospital Cl\u00ednic de Barcelona, 08036 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3422-9685","authenticated-orcid":false,"given":"Rafael","family":"Artuch Iriberri","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry, Institut de Recerca Sant Joan de D\u00e9u, 08950 Esplugues de Llobrega, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), ISCIII, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2132-4138","authenticated-orcid":false,"given":"Judit","family":"Garc\u00eda-Villoria","sequence":"additional","affiliation":[{"name":"Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular 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