Adenine phosphoribosyltransferase deficiency

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.

Also known as 2,8-dihydroxyadenine urolithiasis, 2,8-dihydroxyadeninuria disease, adenine phosphoribosyltransferase deficiency, APRT deficiency — per MONDO

Also identified as

• DOID 0060350 per MONDO
• MESH C538228 per MONDO
• NCIT C121564 per MONDO
• OMIM 614723 per MONDO
• Orphanet 976 per MONDO
• SCTID 124274002 per MONDO
• UMLS C0268120 per MONDO