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Article

SSADH deficiency possibly associated with enzyme activity-reducing SNPs.

Brain & development - 1 Oct 2016

Akiyama Tomoyuki, Osaka Hitoshi, Shimbo Hiroko, Kuhara Tomiko, Shibata Takashi, Kobayashi Katsuhiro, Kurosawa Kenji, Yoshinaga Harumi

Abstract excerpt

BACKGROUND: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder that affects the degradation of gamma-aminobutyric acid and leads to the accumulation of gamma-hydroxybutyric acid (GHB) in body fluids. Diagnosis of SSADH deficiency is challenging, since the neurological symptoms are non-specific. CASE: The patient is a nine-year-old Japanese boy who presented with...

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PMID: 27056292
DOI: 10.1016/j.braindev.2016.03.008

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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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