Advances on the research of 3-hydroxy-3-methylglutaric aciduria
10.3760/cma.j.issn.2095-428X.2018.08.022
- VernacularTitle:3-羟基-3-甲基戊二酸尿症研究进展
- Author:
Guangxin WANG
1
;
Haozheng ZHANG
;
Yanling YANG
Author Information
1. 山东大学齐鲁儿童医院儿科研究所
- Keywords:
3-hydroxy-3-methylglutaric aciduria;
Organic aciduria;
Inherited metabolic diseases;
Advances
- From:
Chinese Journal of Applied Clinical Pediatrics
2018;33(8):635-637
- CountryChina
- Language:Chinese
-
Abstract:
3-hydroxy-3-methylglutaric aciduria is a rare organic aciduria inherited by autosomal recessive trait.It is caused by the mutations in 3-hydroxy-3-methylglutaryl-CoA lyase gene.The clinical onset usually occurs in the neonatal and infant period.In recent years,with the development of technology for screening inherited metabolic diseases,the number of children with 3-hydroxy-3-methylglutaric aciduria are increasing.The incidence of this disease is about 1 ∶ 100 000 in reports of Europe and the United States.The incidence in China is unknown.In this paper,the advances on pathogenesis,clinical manifestations,diagnosis and treatment of 3-hydroxy-3-methylglutaric aciduria will be reviewed so as to improve the understanding of this disease and provide reference for its clinical diagnosis and treatment.
