Catalog

Adenine phosphoribosyltransferase deficiency

No MMS code

Link to WHO Definition

Adenine phosphoribosyltransferase deficiency – http://id.who.int/icd/entity/753682703

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder characterised by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) into urine, causing urolithiasis and crystalline nephropathy.