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2,8-dihydroxyadeninuria (2,8-DHA) is caused by an autosomal recessive deficiency in the adenine phosphoribosyltransferase (APRT)
Twitter Poll

Twitter Poll (May 13, 2021)

Answer: A, 2,8-Dihydroxyadeninuria   2,8-dihydroxyadeninuria (2,8-DHA) is caused by an autosomal recessive deficiency in the adenine phosphoribosyltransferase (APRT). The gene…

Adenine phosphoribosyltransferase (APRT), Twitter Poll, Arkana Laboratories
Twitter Poll

Twitter Poll (February 5, 2020)

ANSWER: D, All of the Above 2,8-dihydroxyadeninuria (DHA) disease is a rare autosomal recessive disorder caused by complete adenine phosphoribosyltransferase…

By Vanessa Moreno, MD
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.…

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…