molybdenum cofactor deficiency
ORPHA: 997321 Treatment Available
Overview
metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| fosdenopterin Orphan Cold Chain | Intravenous infusion, 0.44mg/mL concentrate for solution | FDA Approved (2021), Unregistered in India | 3 | 30d |
Classification & Codes
Orphanet Code
ORPHA:99732molybdenum cofactor deficiency
| Orphanet | ORPHA:99732 |
| Treatments | 1 drug(s) |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO