/adenine phosphoribosyltransferase deficiency

adenine phosphoribosyltransferase deficiency

Rare Disease

MONDO:0013869

Also Known As

2,8-dihydroxyadenine urolithiasis2,8-dihydroxyadeninuria diseaseAPRT deficiencyadenine phosphoribosyltransferase deficiencyAPRTDDihydroxyadeninurianephrolithiasis, Dhaurolithiasis, 2,8-dihydroxyadenineurolithiasis, Dha

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.