glutathionuria
MeSH: C536836ORPHA: 33573
Overview
Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with glutathionuria, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilityElevated circulating glutathione concentrationGlutathionuriaReduced tissue gamma-glutamyltransferase activityStrabismusSeizureAtaxiaTremorHyperreflexiaFeeding difficulties
Classification & Codes
MeSH Code
C536836Orphanet Code
ORPHA:33573glutathionuria
| MeSH | C536836 |
| Orphanet | ORPHA:33573 |
| Treatments | 0 drug(s) |
| Symptoms on record | 10 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO