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Article

Succinic semialdehyde dehydrogenase deficiency: exploring the relationship between ALDH5A1 variants and molecular effect on SSADH.

Orphanet journal of rare diseases - 30 May 2026

Yan Dandan, Liu Xiangyu, Gu Chunyu, Cai Yingzi, Fan Wenxuan, Zhang Chunhua, Li Dong, Shu Jianbo, Wang Hanjie, Cai Chunquan

Abstract excerpt

BACKGROUND: Succinic semialdehyde dehydrogenase deficiency (SSADHD), caused by variants in ALDH5A1, is a rare inherited neurometabolic disorder with phenotypic heterogeneity. To clarify the pathogenicity of ALDH5A1 variants, we systematically investigated their effects on succinic semialdehyde dehydrogenase (SSADH) structure and function. METHODS: We obtained the clinical and molecular characteristics of 12...

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Identifiers

PMID: 42218553
DOI: 10.1186/s13023-026-04409-z
PMCID: PMC13425955

Genes

ALDH5A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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