Catalog

Gamma aminobutyric acid transaminase deficiency

No MMS code

Link to WHO Definition

Gamma aminobutyric acid transaminase deficiency – http://id.who.int/icd/entity/1657261411

Gamma aminobutyric acid transaminase (GABA-T) deficiency is an inborn error of GABA degradation. In the one reported family (with an affected brother and sister), it was characterised by severe psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures and electroencephalographic abnormalities, and growth acceleration. The disorder had an autosomal recessive inheritance and was caused by a homozygous mutation in the GABA-T gene in the reported family.