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adenine phosphoribosyltransferase
Diagnose This!

Diagnose This! (October 16, 2017)

What is your diagnosis?       The photomicrograph shows a distended tubule with an intratubular crystalline cast with argyrophilia.…

L. Nich Cossey, MD
By L. Nich Cossey, MD
(2,8-DHA) 2,8-dihydroxyadenine
Teaching Points

2,8-Dihydroxyadenuria

Adenine phosphoribosyltransferase (APRT) deficiency results from an autosomal recessive enzyme defect of purine metabolism and leads to 2,8-dihydroxyadenine (2,8-DHA) crystalline…