{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:22:07Z","timestamp":1747149727189,"version":"3.40.5"},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,9,21]],"date-time":"2022-09-21T00:00:00Z","timestamp":1663718400000},"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":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Newborn screening (NBS) for classical galactosaemia (CG) facilitates early diagnosis and treatment to prevent life\u2010threatening complications, but remains controversial, and screening protocols vary widely between programmes. False\u2010negatives associated with first\u2010tier screening of total galactose metabolites (TGAL) are infrequently reported; however, newborns with TGAL below the screening threshold have not been systematically studied. Following the diagnosis of CG in two siblings missed by NBS, a retrospective cohort study of infants with TGAL just below the cut\u2010off (1.5\u2009mmol\/L blood) was conducted. Children born in New Zealand (NZ) from 2011 to 2019, with TGAL 1.0\u20131.49\u2009mmol\/L on NBS were identified from the national metabolic screening programme (NMSP) database, and clinical coding data and medical records were reviewed. <jats:italic>GALT<\/jats:italic> sequencing was performed if CG could not be excluded following review of medical records. 328 infants with TGAL 1.0\u20131.49\u2009mmol\/L on NBS were identified, of whom 35 had ICD\u201010 codes relevant to CG including vomiting, poor feeding, weight loss, failure to thrive, jaundice, hepatitis, <jats:italic>Escherichia coli<\/jats:italic> urinary tract infection, sepsis, intracranial hypertension and death. CG could be excluded in 34\/35, due to documentation of clinical improvement with continued dietary galactose intake, or a clear alternative aetiology. <jats:italic>GALT<\/jats:italic> sequencing in the remaining individual confirmed Duarte\u2010variant galactosaemia (DG). In conclusion, undiagnosed CG appears to be rare in those with TGAL 1.0\u20131.49\u2009mmol\/L on NBS; however, our recent experience with missed cases is nevertheless concerning. Further work is required to establish the optimum screening strategy, to maximize the early detection of CG without excess false\u2010positives.<\/jats:p>","DOI":"10.1002\/jmd2.12339","type":"journal-article","created":{"date-parts":[[2022,9,22]],"date-time":"2022-09-22T04:38:10Z","timestamp":1663821490000},"page":"180-186","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening"],"prefix":"10.1002","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9368-9887","authenticated-orcid":false,"given":"Isaac","family":"Bernhardt","sequence":"first","affiliation":[{"name":"National Metabolic Service, Auckland City Hospital and Starship Children's Hospital  Auckland New 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