4-aminobutyrate aminotransferase deficiency
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
metabolic disorder |
| gptkbp:affects |
gptkb:GABA_metabolism
|
| gptkbp:alsoKnownAs |
gptkb:GABA-transaminase_deficiency
|
| gptkbp:causedBy |
mutation in ABAT gene
|
| gptkbp:diagnosedBy |
genetic testing
measurement of GABA levels |
| gptkbp:firstDescribed |
1981
|
| https://www.w3.org/2000/01/rdf-schema#label |
4-aminobutyrate aminotransferase deficiency
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
613163
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:symptom |
hypotonia
seizures developmental delay |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:GABA-transaminase_deficiency
|
| gptkbp:bfsLayer |
7
|