白内障
错义突变
半乳糖激酶
半乳糖血症
医学
鉴别诊断
儿科
家族史
突变
遗传学
病理
半乳糖
基因
内科学
生物
眼科
生物化学
大肠杆菌
作者
Catarina Cordeiro,Paula Garcia,Dalila Coelho,Mònica Oliva
出处
期刊:Case Reports
[BMJ]
日期:2021-06-01
卷期号:14 (6): e242227-e242227
被引量:4
标识
DOI:10.1136/bcr-2021-242227
摘要
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.
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