Adenine phosphoribosyltransferase deficiency

What is Adenine phosphoribosyltransferase deficiency?

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.

Other condition names

  • 2,8-dihydroxyadenine urolithiasis
  • APRT deficiency

Inheritance type

Autosomal recessive

Age of Onset

  • Adolescent
  • Adult
  • Childhood
  • Elderly
  • Infancy
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "". Data version 1.3.16 / 4.1.7.