Adenine Phosphoribosyltransferase Deficiency (APRTD)

Adenine Phosphoribosyltransferase Deficiency, also known as aprt deficiency, is related to dihydroxyadeninuria and nephrolithiasis, calcium oxalate, 1. An important gene associated with Adenine Phosphoribosyltransferase Deficiency is APRT (Adenine Phosphoribosyltransferase), and among its related pathways/superpathways are Metabolism and Metabolism of nucleotides. The drugs Febuxostat and Allopurinol have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotypes are abnormal circulating enzyme concentration or activity and hypertension