Article

Functional Characterization of a Spectrum of Genetic Variants in a Family With Succinic Semialdehyde Dehydrogenase Deficiency

2024-04-04

Abstract excerpt

Succinic semialdehyde dehydrogenase (SSADH) is a mitochondrial enzyme involved in the catabolism of the neurotransmitter γ-amino butyric acid. Pathogenic variants in the gene encoding this enzyme cause SSADH deficiency, a developmental disease manifesting as hypotonia, autism and epilepsy. SSADH deficiency patients usually have family-specific gene variants. Here, we describe a family exhibiting four different SSA...

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Literature Corpus work: 24d34afa-2227-5559-bcf4-1411e1509f85
DOI: 10.20944/preprints202404.0360.v1

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