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

• Main Authors: Ping Wang (Author), Fengying Cai (Author), Lirong Cao (Author), Yizheng Wang (Author), Qianqian Zou (Author), Peng Zhao (Author), Chao Wang (Author), Yuqin Zhang (Author), Chunquan Cai (Author), Jianbo Shu (Author)
• Format: Book
• Published: BMC, 2019-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...