severe phosphoribosylpyrophosphate synthetase superactivity
ORPHA: 411543
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 severe phosphoribosylpyrophosphate synthetase superactivity, sourced from HPO and Orphanet clinical annotations.
Uric acid nephrolithiasisGoutHyperuricemiaHyperuricosuriaIncreased phosphoribosylpyrophosphate synthetase levelNeurodevelopmental abnormalityRenal insufficiencySensorineural hearing impairmentAbnormality of the nervous systemIntellectual disabilityHypotoniaArthritisCrystalluriaAtaxiaAcute kidney injuryMotor polyneuropathyPeripheral neuropathyGlaucomaMyopiaGlobal developmental delayRecurrent respiratory infections
Classification & Codes
Orphanet Code
ORPHA:411543severe phosphoribosylpyrophosphate synthetase superactivity
| Orphanet | ORPHA:411543 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO