Novel mutations in a Chinese family with two patients with succinic semialdehyde dehydrogenase deficiency

• Published in: Gynecological endocrinology Vol. 36; no. 10; pp. 1 - 933
• Main Authors: Chen, Xiao-Dan, Lin, Yun-Ting, Jiang, Min-Yan, Li, Xiu-Zhen, Li, Duan, Hu, Hao, Liu, Li
• Format: Journal Article
• Language: English
• Published: England 02.10.2020
• Subjects: SSADH deficiency; ALDH5A1 gene; novel mutation; whole exome sequencing

A considerable proportion of pediatric disease burden is mainly caused by inborn errors of metabolism. Succinic semi-aldehyde dehydrogenase (SSADH) deficiency is an unusual disorder of the gamma-aminobutyric acid metabolism. Till date, very few cases have been reported in China. Trio-WES was used to...