PT  - JOURNAL ARTICLE
AU  - Catarina Cordeiro
AU  - Paula Garcia
AU  - Dalila Coelho
AU  - Mónica Oliva
TI  - Galactokinase deficiency: a treatable cause of bilateral cataracts
AID  - 10.1136/bcr-2021-242227
DP  - 2021 Jun 01
TA  - BMJ Case Reports
PG  - e242227
VI  - 14
IP  - 6
4099  - http://casereports.bmj.com/content/14/6/e242227.short
4100  - http://casereports.bmj.com/content/14/6/e242227.full
SO  - BMJ Case Reports2021 Jun 01; 14
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.