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Mild phosphoribosylpyrophosphate synthetase superactivity

Disease definition

Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity (see this term), an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders.


Classification level: Subtype of disorder
  • Synonym(s):
    • Mild PRPP synthetase superactivity
    • Mild PRPS1 superactivity
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Adolescent, Adult
  • ICD-10: E79.8
  • OMIM: 300661
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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