ORPHA:2066
Gamma-aminobutyric acid transaminase deficiency
Synonyms: GABA transaminase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare disorder of gamma-aminobutyric acid (GABA) metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gamma-aminobutyric acid transaminase deficiency | GABA transaminase deficiency |
| fr | Déficit en transaminase de l'acide gamma-aminobutyrique | Déficit en GABA transaminase |
| de | Gamma-Aminobuttersäure-Transaminase-Mangel | GABA-Transaminase-Mangel |
| es | Deficiencia de ácido gamma aminobutírico transaminasa | Deficiencia de GABA transaminasa |
| it | Deficit di acido gamma-aminobutirrico transaminasi | Deficit di GABA transaminasi |
| nl | Deficiëntie van gamma-aminoboterzuurtransaminase | Deficiëntie van GABA-transaminase |
| pt | Deficiência de ácido gama-aminobutírico transaminase | Deficiência de GABA transaminase |
| pl | Niedobór transaminazy kwasu gamma-aminomasłowego | Niedobór transaminazy GABA |
| cs | Deficit transaminázy gamma-aminobutyrátové kyseliny | Deficit GABA transaminázy · Deficit GABA-T |
| uk | Дефіцит трансамінази гамма-аміномасляної кислоти | Дефіцит GABA-трансамінази |
| zh | γ-氨基丁酸转氨酶缺乏 | γ-氨基丁酸转氨酶缺乏 |
| tr | Gama-aminobütirik asit transaminaz eksikliği | GABA transaminaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613163 | E | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| ICD-11 | 5C59.1 | NTBT | index | validated |
| MONDO | 0013166 | E | validated | |
| MONDO | 13166 | E | validated | |
| MeSH | C535407 | E | validated | |
| UMLS | C0342708 | E | validated | |
| GARD | 194 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:308407Disorder of beta and omega amino acid metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:79175Disorder of gamma-aminobutyric acid metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:225707Metabolic neurotransmission anomaly with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABAT | Disease-causing germline mutation(s) in | Assessed | HGNC:23 | ENSG00000183044 | 137150 | 16p13.2 | 4-aminobutyrate aminotransferase | 9746906[PMID]_10407778[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | 25738457[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25738457[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
22 annotations · validated 2025-06-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0200134 | Epileptic encephalopathy | |
| Very frequent (99-80%) | ||
| HP:0007266 | Cerebral dysmyelination | |
| HP:0002353 | EEG abnormality | |
| HP:0032531 | Elevated CSF gamma-aminobutyric acid concentration | |
| HP:0410053 | Elevated circulating gamma-aminobutyric acid concentration | |
| HP:0001252 | Hypotonia | |
| HP:0500253 | Increased level of gamma-aminobutyric acid in urine | |
| HP:0011344 | Severe global developmental delay | |
| Frequent (79-30%) | ||
| HP:0002059 | Cerebral atrophy | |
| HP:0001266 | Choreoathetosis | |
| HP:0000845 | Elevated circulating growth hormone concentration | |
| HP:0001508 | Failure to thrive | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0025430 | High-pitched cry | |
| HP:0001347 | Hyperreflexia | |
| HP:0100786 | Hypersomnia | |
| HP:0007272 | Progressive psychomotor deterioration | |
| HP:0001250 | Seizure | |
| HP:0000098 | Tall stature | |
| Occasional (29-5%) | ||
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0001254 | Lethargy | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 33768830[PMID]_30644311[PMID]_28411234[PMID]_27376954[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2066
- This record as JSON: /data/d/2066.json