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Gamma-aminobutyric acid transaminase deficiency

Disease definition

Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.

ORPHA:2066

Classification level: Disorder
  • Synonym(s):
    • GABA transaminase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: E72.8
  • OMIM: 613163
  • UMLS: C0342708
  • MeSH: C535407
  • GARD: 194
  • MedDRA: -
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