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Succinic semialdehyde dehydrogenase deficiency

What is Succinic semialdehyde dehydrogenase deficiency?

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.

Other condition names

  • 4-hydroxybutyric aciduria
  • Gamma-hydroxybutyric aciduria
  • SSADH deficiency

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: Unknown

Age of Onset

  • Childhood
  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.