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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…

Vanessa Moreno, MD
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.…

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…