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2,8-dihydroxyadenuria
Autosomal recessive disorder in which homozygotes develop urolithiasis. Stones resemble uric acid stones
Genetics: deficiency in adenine phosphoribosyltransferase
Management: allopurinol
Interactions
disease interactions
Related
adenine phosphoribosyltransferase (APRT)
urinary calculus (stone, nephrolithiasis, urolithiasis)
General
genetic disease of the kidney
References
Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed)
Lippincott-Raven, Philadelphia, 1998, pg 616