Successful management of a neonate with OTC deficiency presenting with hyperammonemia and severe cardiac dysfunction with extracorporeal membrane oxygenation support and continuous renal replacement therapy

Abstract

Ornithine transcarbamylase (OTC) deficiency is an X-linked urea cycle disorder which-in severe form-results in rapid accumulation of ammonia and glutamine with subsequent irreversible brain injury. We present a case of severe left ventricular dysfunction with hyperammonemic crisis caused by OTC deficiency which was managed with veno-arterial extracorporeal membrane oxygenation support combined with continuous renal replacement therapy. Aggressive treatment led to normalization of ammonia and full left ventricular recovery.2192-8312Mattke, Adrian C <br />Orcid: 0000-0001-7309-1167 <br />Shikata, Fumiaki <br />McGill, James <br />Justo, Rob <br />Venugopal, Prem <br />Case Reports <br />JIMD Rep. 2020 Jun 3;55(1):12-14. doi: 10.1002/jmd2.12135. eCollection 2020 Sep. <br />