Advances in studies on biotinidase deficiency
10.3760/cma.j.issn.2095-428X.2016.08.021
- VernacularTitle:生物素酶缺乏症研究进展
- Author:
Haozheng ZHANG
;
Guangxin WANG
- Publication Type:Journal Article
- Keywords:
Biotinidase deficiency;
Biotinidase gene;
Clinical manifestation;
Treatment
- From:
Chinese Journal of Applied Clinical Pediatrics
2016;31(8):637-640
- CountryChina
- Language:Chinese
-
Abstract:
Biotinidase deficiency is an autosomal recessive genetic disease with the decrease of biotinidase activity,which is caused by mutations of biotinidase gene.In recent years,with the development of genetic metabolic disease screening,biotinidase deficiency has been diagnosed constantly.Its incidence is about 1 ∶ 60 000 persons overseas and its clinical manifestations are complicated with high mortality and morbidity.In this paper,advances on pathogenesis,clinical manifestations,diagnosis and treatment of biotinidase deficiency will be reviewed.
