Creatine metabolism and hyperammonemia in argentinian patients with ornithine transcarbamilase deficiency
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Date
2013Author
Martínez, Lidia
Bezard, Miriam
Silvera Ruiz, Silene
Dodelson de Kremer, Raquel
Larovere, Laura
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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.