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Successful management of a neonate with OTC deficiency presenting with hyperammonemia and severe cardiac dysfunction
Adrian C Mattke1,2,3,4, Fumiaki Shikata2, James McGill5
1Paediatric Intensive Care Unit, Queensland Children's Hospital South Brisbane Queensland Australia.
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.
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