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succinic semialdehyde dehydrogenase deficiency

MeSH: C535803ORPHA: 22

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

Rare disorder involving deficiency in GABA degradation

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with succinic semialdehyde dehydrogenase deficiency, sourced from HPO and Orphanet clinical annotations.

Atypical behaviorIntellectual disabilityAtaxiaHypotoniaGlobal developmental delayAbnormality of metabolism/homeostasisBilateral tonic-clonic seizureGeneralized myoclonic seizureStatus epilepticus

Classification & Codes

MeSH Code

C535803

Orphanet Code

ORPHA:22
succinic semialdehyde dehydrogenase deficiency
MeSHC535803
OrphanetORPHA:22
Treatments0 drug(s)
Symptoms on record9 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO