A novel pathogenic mutation of the GALC gene in a patient with Krabbe disease

作者：吴静; 李玲

来源：第十三届江浙沪儿科学术会议暨2016年浙江省医学会儿科学学术年会, 中国浙江湖州, 2016-07-21.

• A novel pathogenic mutation of the GALC gene in a patient with Krabbe disease

<正>目的:Krabbe Disease,also known as Globoid cell leukodystrophy,is an autosomal recessive disorder.There is not enough galactocerebrosidase(GALC)available,and galactocerebroside which should be broken down to start accumulating.It damages the nerve cells in the central nervous system.According to onset age,Krabbe Disease includes the early infantile form and the late onset forms.We report here a new mutation in GALC,which lead to the

• 出版日期2016
• 单位上海交通大学; 神经内科