ORPHA:411536
Mild phosphoribosylpyrophosphate synthetase superactivity
Also called Mild PRPP synthetase superactivity, Mild PRPS1 superactivity
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- X-linked recessive
- Typical age of onset
- Adolescent, Adult
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:411536 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Hyperuricemia
- Hyperuricosuria
- Increased phosphoribosylpyrophosphate synthetase activity
- Uric acid nephrolithiasis
- Arthritis
- Crystalluria