{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T12:13:13Z","timestamp":1783685593273,"version":"3.55.0"},"reference-count":11,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,5,16]]},"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:p>Congenital cataract can be caused by several systemic diseases and differential diagnosis should be done between infections, genetic or metabolic diseases. We present a case of a 12-month-old girl with bilateral nuclear cataracts that was referred for investigation. Since she did not present a family history of congenital cataracts or metabolic diseases, and her physical examination was normal, a systemic evaluation was performed. Biochemical studies disclosed abnormal galactose metabolism signs. The diagnosis of galactokinase (GALK1) deficiency was considered and the study of the GALK1 gene allowed identifying a pathogenic genetic variant and a predictably pathogenic missense mutation, previously not described. Dietary measures were imposed with a good evolution.<\/jats:p>","DOI":"10.1136\/bcr-2021-242227","type":"journal-article","created":{"date-parts":[[2021,6,4]],"date-time":"2021-06-04T11:07:56Z","timestamp":1622804876000},"page":"e242227","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Galactokinase deficiency: a treatable cause of bilateral cataracts"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9509-9378","authenticated-orcid":false,"given":"Catarina","family":"Cordeiro","sequence":"first","affiliation":[{"name":"Departamento Pedi\u00e1trico - Centro Hospitalar e Universitario de Coimbra, Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Garcia","sequence":"additional","affiliation":[{"name":"Departamento Pedi\u00e1trico - Centro Hospitalar e Universitario de Coimbra, Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dalila","family":"Coelho","sequence":"additional","affiliation":[{"name":"Departamento Pedi\u00e1trico - 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