Search & Filter All Posts
All Articles
(2 Results)
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…
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…
