RT Journal Article SR Electronic T1 Galactokinase deficiency: a treatable cause of bilateral cataracts JF BMJ Case Reports JO BMJ Case Reports FD BMJ Publishing Group Ltd SP e242227 DO 10.1136/bcr-2021-242227 VO 14 IS 6 A1 Catarina Cordeiro A1 Paula Garcia A1 Dalila Coelho A1 Mónica Oliva YR 2021 UL http://casereports.bmj.com/content/14/6/e242227.abstract AB 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.