Adenine phosphoribosyltransferase deficiency

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.

Recurrent urinary tract infections

Repeated infections of the urinary tract.


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PMID (PMCID)