Rare Zebra

Rare disease search prototype built on Orphanet data

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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