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 "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.