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Succinic Semialdehyde Dehydrogenase Deficiency: An Update.

Cells - 19 Feb 2020

Didiášová Miroslava, Banning Antje, Brennenstuhl Heiko, Jung-Klawitter Sabine, Cinquemani Claudio, Opladen Thomas, Tikkanen Ritva

Abstract excerpt

Succinic semialdehyde dehydrogenase deficiency (SSADH-D) is a genetic disorder that results from the aberrant metabolism of the neurotransmitter γ-amino butyric acid (GABA). The disease is caused by impaired activity of the mitochondrial enzyme succinic semialdehyde dehydrogenase. SSADH-D manifests as varying degrees of mental retardation, autism, ataxia, and epileptic seizures, but the clinical picture is highly...

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PMID: 32093054
DOI: 10.3390/cells9020477
PMCID: PMC7072817

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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