Adenine phosphoribosyltransferase deficiency is an autosomal recessive disorder characterized by sedimentation of dihydroxyadenine in the urinary tract (DHA urolithiasis).
For the management of adenine phosphoribosyltransferase deficiency Allopurinol treatment can be recommended. Febuxostat provides an plausible alternative though not yet tested and/or published with that disorder. Additional supportive therapy includes sufficient water intake and early treatment of urogenital infections.
DHA crystals show a typical picture by polarized microscopy: the crystals appear as round and reddish-brown, with characteristic central Maltese cross pattern.
|Nephrolithiasis diarrhea syndrome|
|Susceptibility to nephrolithiasis|
|Uric acid nephropathy|
Mimori A et al. (1991) A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.[^]
Kamatani N et al. (1989) Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.[^]
Hidaka Y et al. (1987) Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.[^]
Menardi C et al. (1997) Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair.[^]
Bollée G et. al. (2012) Adenine phosphoribosyltransferase deficiency.[^]