GABA aminotransaminase deficiency
Findings
No curated finding names GABA aminotransaminase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0013166), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset · Death in childhood
HPO, annotations 2026-09-02
Features
31 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Epileptic encephalopathyHPOHP:0200134
- Obligate (100% of cases)
- Feeding difficultiesHPOHP:0011968
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- High-pitched cryHPOHP:0025430
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 19
- Increased level of gamma-aminobutyric acid in urineHPOHP:0500253
- Very frequent (80% to 99% of cases)
- Severe global developmental delayHPOHP:0011344
- Very frequent (80% to 99% of cases)
- Cerebral atrophyHPOHP:0002059
- Frequent (30% to 79% of cases)
- ChoreoathetosisHPOHP:0001266
- Frequent (30% to 79% of cases)
- Elevated circulating growth hormone concentrationHPOHP:0000845
- Frequent (30% to 79% of cases)
- Excessive daytime somnolenceHPOHP:0001262
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ABATHGNC:23
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: GABA aminotransaminase deficiency
- Also called
- GABA aminotransferase deficiencyGABA transaminase deficiencygamma-aminobutyric acid transaminase deficiency