GABA aminotransferase deficiency
MeSH: C535407ORPHA: 20661 Treatment Available
Overview
Human disease
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| Vigabatrin Orphan | Oral tablet 500mg; Oral powder for solution 500mg sachets | FDA Approved, EMA Approved | 6 | 14d |
Clinical Presentation
Signs and symptoms associated with GABA aminotransferase deficiency, sourced from HPO and Orphanet clinical annotations.
Epileptic encephalopathyHypotoniaEEG abnormalityCerebral dysmyelinationSevere global developmental delayElevated CSF gamma-aminobutyric acid concentrationElevated circulating gamma-aminobutyric acid concentrationIncreased level of gamma-aminobutyric acid in urineTall statureElevated circulating growth hormone concentrationSeizureChoreoathetosisHyperreflexiaFailure to thriveCerebral atrophyProgressive psychomotor deteriorationFeeding difficulties in infancyHigh-pitched cryExcessive daytime somnolenceLethargyCerebellar atrophyAbnormal corpus callosum morphology
Classification & Codes
MeSH Code
C535407Orphanet Code
ORPHA:2066GABA aminotransferase deficiency
| MeSH | C535407 |
| Orphanet | ORPHA:2066 |
| Treatments | 1 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO