Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency

Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency

Abstract Background Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessively-inherited defect of γ-aminobutyric acid (GABA) metabolism. The absence of SSADH, which is encoded by aldehyde dehydrogenase family 5 member A1 (ALDH5A1) gene, leads to the accumulation of GABA...

Full description

Bibliographic Details
Main Authors: Ping Wang, Fengying Cai, Lirong Cao, Yizheng Wang, Qianqian Zou, Peng Zhao, Chao Wang, Yuqin Zhang, Chunquan Cai, Jianbo Shu
Format: Article
Language:English
Published: BMC 2019-05-01
Series:BMC Medical Genetics
Subjects:
Succinic semialdehyde dehydrogenase deficiency
ALDH5A1 gene
Multidimensional analysis
Novel mutation
Online Access:http://link.springer.com/article/10.1186/s12881-019-0821-z

Internet

http://link.springer.com/article/10.1186/s12881-019-0821-z

Similar Items