disease has basis in dysfunction of APRT inherited amino acid metabolic disorder adenine phosphoribosyltransferase deficiency 2,8-dihydroxyadenine urolithiasis 2,8-dihydroxyadeninuria disease APRT deficiency APRTD 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. DOID:0060350 Dihydroxyadeninuria GARD:0000546 GARD:0010666 ICD10:E79.8 MESH:C538228 MONDO:0013869 NCIT:C121564 OMIM:614723 Orphanet:976 SCTID:124274002 UMLS:C0268120 adenine phosphoribosyltransferase deficiency https://rarediseases.info.nih.gov/diseases/10666/dihydroxyadeninuria nephrolithiasis, Dha urolithiasis, 2,8-dihydroxyadenine urolithiasis, Dha inborn disorder of purine metabolism nephropathy secondary to a storage or other metabolic disease