Adenine phosphoribosyltransferase deficiency
From BugSigDB
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.
- Aliases
- 2,8-dihydroxyadenine urolithiasis
- 2,8-dihydroxyadeninuria disease
- adenine phosphoribosyltransferase deficiency
- adenine phosphoribosyltransferase deficiency
- APRT deficiency
- APRTD
- Dihydroxyadeninuria
- nephrolithiasis, Dha
- urolithiasis, 2,8-dihydroxyadenine
- urolithiasis, Dha
