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Gamma-aminobutyric acid transaminase deficiency

Synonym(s) GABA transaminase deficiency
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
  • E72.8
  • C0342708
  • C535407
MedDRA -


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 features such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.

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