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

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 defi...

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Autores principales: Mattke, Adrian C., Shikata, Fumiaki, McGill, James, Justo, Rob, Venugopal, Prem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463050/
https://www.ncbi.nlm.nih.gov/pubmed/32905004
http://dx.doi.org/10.1002/jmd2.12135
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author Mattke, Adrian C.
Shikata, Fumiaki
McGill, James
Justo, Rob
Venugopal, Prem
author_facet Mattke, Adrian C.
Shikata, Fumiaki
McGill, James
Justo, Rob
Venugopal, Prem
author_sort Mattke, Adrian C.
collection PubMed
description 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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spelling pubmed-74630502020-09-03 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 Mattke, Adrian C. Shikata, Fumiaki McGill, James Justo, Rob Venugopal, Prem JIMD Rep Case Reports 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. John Wiley & Sons, Inc. 2020-06-03 /pmc/articles/PMC7463050/ /pubmed/32905004 http://dx.doi.org/10.1002/jmd2.12135 Text en © 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Mattke, Adrian C.
Shikata, Fumiaki
McGill, James
Justo, Rob
Venugopal, Prem
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
title 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463050/
https://www.ncbi.nlm.nih.gov/pubmed/32905004
http://dx.doi.org/10.1002/jmd2.12135
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