Creatine metabolism and hyperammonemia in argentinian patients with ornithine transcarbamilase deficiency

Abstract

Introduction: Creatine (Cr) biosynthesis requires 2 enzymes, arginine–glycine amidinotransferase and guanidinoacetate methyltransferase, and it can be taken up by cells using transporters. Recent studies demonstrated the impact of toxic ammonia (NH4+) in ornithine transcarbamilase deficiency (OTCD), a urea cycle defect (UCD), on Cr metabolism. The Cr secondary deficiency has been found in mice experimental models and in brain cells’ primary culture but are yet to be tested in humans. Objective: To evaluate relationships between NH4+ and Cr synthesis by guanidine compounds analysis in patients with OTCD.