2,8 dihydroxy-adenine urolithiasis

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2,8 dihydroxy-adenine urolithiasis (also called adenine phosphoribosyltransferase deficiency) is an autosomal recessive disorder resulting in accumulation and urinary excretion of the insoluble purine 2,8-dihydroxyadenine. It can result in nephrolithiasis, acute renal failure and permanent kidney damage.

2,8 dihydroxy-adenine urolithiasis is inherited in an autosomal recessive fashion.

[edit] See also

• Adenine phosphoribosyltransferase

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