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Adenine phosphoribosyltransferase deficiency

Disease definition

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.

ORPHA:976

  • Synonym(s):
    • 2,8-dihydroxyadenine urolithiasis
    • APRT deficiency
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E79.8
  • OMIM: 614723
  • UMLS: -
  • MeSH: -
  • GARD: 546
  • MedDRA: -

Detailed information

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