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Up to: Inborn disorder of amino acid metabolism · Inborn disorder of purine metabolism
Adenine phosphoribosyltransferase deficiency
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.
This condition has no sub-types.