mild phosphoribosylpyrophosphate synthetase superactivity
ORPHA: 411536
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 mild phosphoribosylpyrophosphate synthetase superactivity, sourced from HPO and Orphanet clinical annotations.
HyperuricemiaHyperuricosuriaIncreased phosphoribosylpyrophosphate synthetase levelUric acid nephrolithiasisArthritisCrystalluriaRenal insufficiencyAcute kidney injuryStage 4 chronic kidney diseaseAbnormality of the nervous system
Classification & Codes
Orphanet Code
ORPHA:411536mild phosphoribosylpyrophosphate synthetase superactivity
| Orphanet | ORPHA:411536 |
| Treatments | 0 drug(s) |
| Symptoms on record | 10 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO