Galactokinase deficiency: a treatable cause of bilateral cataracts
| Autor: | Paula Garcia, Dalila Coelho, Mónica Oliva, Catarina Cordeiro |
|---|---|
| Rok vydání: | 2023 |
| Předmět: |
0301 basic medicine
Galactosemias Mutation Missense Case Report 030105 genetics & heredity Bioinformatics Cataract 03 medical and health sciences Galactokinase Cataracts Missense mutation Medicine Humans Family history business.industry Infant General Medicine medicine.disease Galactokinase deficiency Bilateral Cataracts 030104 developmental biology Congenital cataracts Female Differential diagnosis business |
| Zdroj: | BMJ Case Rep |
| ISSN: | 1757-790X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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