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Succinic semialdehyde dehydrogenase deficiency

Disease definition

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.

ORPHA:22

  • Synonym(s):
    • 4-hydroxybutyric aciduria
    • Gamma-hydroxybutyric aciduria
    • SSADH deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Infancy, Neonatal
  • ICD-10: E72.8
  • OMIM: 271980
  • UMLS: C0268631
  • MeSH: -
  • GARD: 7695
  • MedDRA: -

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