Succinic semialdehyde dehydrogenase deficiency

MONDO:0010083

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.

Also known as: 4-hydroxybutyric aciduria, SSADH deficiency, gamma-hydroxybutyric aciduria, succinic semialdehyde dehydrogenase deficiency, GABA metabolic defect, SSADHD, Ssadh deficiency, gamma-hydroxybutyricaciduria

1 clinical trial for this condition and its sub-types, 1 tagged with Succinic semialdehyde dehydrogenase deficiency itself.

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Where it sits in the disease tree

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↑ Gamma-amino butyric acid metabolism disorder (1)

Including sub-types (1) Tagged with Succinic semialdehyde dehydrogenase deficiency (1)

Trials to join now! 1

Rare brain disorder study seeks clues to disease progression

Knowledge-focused Recruiting now

This study tracks up to 55 people with SSADH deficiency, a rare genetic disorder that affects brain function. Researchers will measure symptoms, brain activity, and chemical levels in the body over time to see how the disease changes with age. The goal is to find markers that pre…

Sponsor: Boston Children's Hospital • Aim: Knowledge-focused

Last updated Jun 27, 2026 08:10 UTC

Succinic semialdehyde dehydrogenase deficiency

Where it sits in the disease tree

Rare brain disorder study seeks clues to disease progression