succinic semialdehyde dehydrogenase deficiency

A rare hereditary autosomal recessive neurologic disorder in which an enzyme defect in the GABA degradation pathway causes a consecutive elevation of gamma-hydroxybutyric acid (GHB) and GAMMA-AMINOBUTYRIC ACID (GABA). It is characterized by DEVELOPMENTAL DISABILITIES; INTELLECTUAL DISABILITIES; HYPOTONIA; ATAXIA; SEIZURES; AGGRESSION, hyperkinetic behavior, and sleep disturbances. Mutations in the ALDH5A1 gene have been identified. OMIM: 271980

Also Known As:

4-Hydroxybutyricaciduria; 4-hydroxybutyric aciduria; Gamma-Hydroxybutyric Acidemia; Gamma-Hydroxybutyric Aciduria; SSADH Deficiency

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Amino Acid Metabolism: 1
      - succinic semialdehyde dehydrogenase deficiency: 200
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Amino Acid Metabolism: 1
      - succinic semialdehyde dehydrogenase deficiency: 200
Mental Disorders: 25040
- Neurodevelopmental Disorders: 3318
  - Developmental Disabilities: 718
    - succinic semialdehyde dehydrogenase deficiency: 200
Enzymes and Coenzymes: 1
- Enzymes: 155591
  - Oxidoreductases: 13899
    - Oxidoreductases Acting on Aldehyde or Oxo Group Donors
      - Aldehyde Oxidoreductases: 1
        Succinate-Semialdehyde Dehydrogenase: 113
        succinic semialdehyde dehydrogenase deficiency: 200

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Disease

Drug/Important Bio-Agent (IBA)