| CASE REPORT |
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| Year : 2017 | Volume
: 33
| Issue : 3 | Page : 246-248 |
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Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report
Pramod Krishnappa1, Venkatesh Krishnamoorthy1, Kiran Krishne Gowda2
1 Department of Urology, NU Hospitals, Bengaluru, Karnataka, India
2 Department of Laboratory Medicine, NU Hospitals, Bengaluru, Karnataka, India
Correspondence Address:
Pramod Krishnappa
Department of Urology, NU Hospitals, Bengaluru, Karnataka
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/iju.IJU_419_16
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Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive error of purine metabolism resulting in the generation of 2,8-dihydroxyadenine (DHA), a highly insoluble metabolite of adenine, which can cause radiolucent urolithiasis. This is the second case of DHA stone being reported in India and the first case in India to document the mutation of the APRT gene on blood DNA analysis.
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