Orphanet: Hypoxanthine guanine phosphoribosyltransferase deficiency

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Hypoxanthine-guanine phosphoribosyltransferase deficiency

Disease definition

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.


  • Synonym(s):
    • HPRT deficiency
    • HPRT1 deficiency
    • Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: All ages
  • ICD-10: E79.8
  • OMIM: -
  • UMLS: C0023374
  • MeSH: -
  • GARD: 2943
  • MedDRA: -

Detailed information


Additional information

Further information on this disease

Specialised Social Services

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