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

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology - 1 Oct 2020

Chen Xiao-Dan, Lin Yun-Ting, Jiang Min-Yan, Li Xiu-Zhen, Li Duan, Hu Hao, Liu Li

Abstract excerpt

Background: 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.Case presentation: Trio-WES was used to characterize the ALDH5A1 gene in two children of a Chinese family, who presented with...

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Identifiers

PMID: 32223457
DOI: 10.1080/09513590.2020.1744555

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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