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Phosphoribosylpyrophosphate synthetase superactivity

Disease definition

Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity) (see these terms).

ORPHA:3222

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

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