Preferred Label : Gamma aminobutyric acid transaminase deficiency;
ICD-11 definition : 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.;
ICD-11 synonym : GABA transaminase deficiency; GABA - [gamma aminobutyric acid] transaminase deficiency;
Origin ID : 1657261411;
UMLS CUI : C0342708;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
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.
