Orphanet: Phosphoribosylpyrophosphate synthetase superactivity

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Phosphoribosylpyrophosphate synthetase superactivity

Disease definition

A rare X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement.


Classification level: Disorder
  • Synonym(s):
    • PRPP synthetase superactivity
    • PRPS1 superactivity
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Adolescent, Adult, Infancy, Childhood, Neonatal
  • ICD-10: E79.8
  • OMIM: 300661
  • UMLS: C1970827
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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