Abstract
Adenine phosphoribosyltransferase (APRT) deficiency is a rare under-recognized disorder of adenine metabolism. It has a familial tendency and is inherited as autosomal recessive. APRT deficiency eventually leads to increased production of 2,8-dihydroxyadenine (DHA) which has a low solubility at normal range of urine PH resulting in the formation of DHA crystals and recurrent kidney stones as the main presenting feature [1]. Deposition of Dihydroxyadenine crystals in the renal tubules can lead to permanent renal damage with significant morbidity.
Highlights
Adenine phosphoribosyltransferase (APRT) deficiency is a rare under-recognized disorder of adenine metabolism
APRT deficiency eventually leads to increased production of 2,8-dihydroxyadenine (DHA) which has a low solubility at normal range of urine PH resulting in the formation of DHA crystals and recurrent kidney stones as the main presenting feature [1]
APRT deficiency is an autosomal recessive metabolic disorder of adenine metabolism, which can lead to accumulation of DHA in the kidney, crystalluria, and the formation of urinary stones
Summary
Adenine phosphoribosyltransferase (APRT) deficiency is a rare under-recognized disorder of adenine metabolism. APRT deficiency eventually leads to increased production of 2,8-dihydroxyadenine (DHA) which has a low solubility at normal range of urine PH resulting in the formation of DHA crystals and recurrent kidney stones as the main presenting feature [1]. The child was maintained on potassium citrate oral dissolution therapy for uric acid stones with target urine PH between 6.2-6.8.
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