GABA transaminase deficiency
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
metabolic disorder |
| gptkbp:affects |
gamma-aminobutyric acid (GABA) metabolism
|
| gptkbp:alsoKnownAs |
gptkb:4-aminobutyrate_aminotransferase_deficiency
GABA-AT deficiency |
| gptkbp:cause |
elevated GABA levels
|
| gptkbp:causedBy |
mutation in ABAT gene
|
| gptkbp:diagnosedBy |
genetic testing
measurement of GABA levels in CSF |
| gptkbp:enzymeDeficiency |
GABA transaminase (4-aminobutyrate aminotransferase)
|
| gptkbp:firstDescribed |
1984
|
| https://www.w3.org/2000/01/rdf-schema#label |
GABA transaminase deficiency
|
| gptkbp:ICD-10_code |
E72.8
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
613163
|
| gptkbp:symptom |
gptkb:encephalopathy
hypotonia seizures developmental delay hyperreflexia |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:16p13.2_(human_ABAT_gene)
|
| gptkbp:bfsLayer |
7
|