Adenine phosphoribosyltransferase deficiency

Definition:

Adenine phosphoribosyltransferase deficiency (APRTD) is an autosomal recessive disorder of purine metabolism and causes urolithiasis due to accumulation of the insoluble purine 2,8-dihydroxyadenine.

References:

[1]. Atsuo Taniguchi, et al. Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1141-5. [Content Brief]

[2]. L Deng, et al. 2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT. Mol Genet Metab. 2001 Mar;72(3):260-4. [Content Brief]

[3]. Marcio Silva, et al. Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis. Biochemistry. 2004 Jun 22;43(24):7663-71. [Content Brief]

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