GABA-transaminase deficiency
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:affects |
central nervous system
|
| gptkbp:alsoKnownAs |
gptkb:4-aminobutyrate_aminotransferase_deficiency
|
| gptkbp:biochemicalFeature |
elevated GABA levels in CSF and urine
|
| gptkbp:causedBy |
mutations in ABAT gene
|
| gptkbp:diagnosedBy |
genetic testing
measurement of GABA levels |
| gptkbp:enzymeDeficiency |
gptkb:GABA_transaminase
|
| 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:prevalence |
extremely rare
|
| gptkbp:symptom |
gptkb:encephalopathy
hypotonia seizures developmental delay hyperreflexia |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:GABA_transaminase
|
| gptkbp:bfsLayer |
6
|