Orphanet: Adenine phosphoribosyltransferase deficiency APRT deficiency

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Adenine phosphoribosyltransferase deficiency

Disease definition

A rare genetic nephropathy secondary to a disorder of purine metabolism characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.


Classification level: Disorder
  • Synonym(s):
    • 2,8-dihydroxyadenine urolithiasis
    • APRT deficiency
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent, Adult, Elderly, Infancy
  • ICD-10: E79.8
  • OMIM: 614723
  • UMLS: C0268120  C3665382
  • MeSH: -
  • GARD: 546
  • MedDRA: -

Detailed information


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