2,8 dihydroxy-adenine urolithiasis
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| ICD-10 | E79. |
|---|---|
| ICD-9 | 277.2 |
| OMIM | 102600 |
| DiseasesDB | 32632 |
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.
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