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Case report: Is exchange transfusion a possible treatment for metabolic decompensation in neonates with methylmalonic aciduria in the setting of limited resources?

Hyperammonemia is a serious complication of methylmalonic acidemia, with high mortality and permanent neurological sequelae in survivors. Primary hospitals are often the first admission hospitals for these children but are limited by their experience and facilities to provide rapid and effective tre...

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Detalles Bibliográficos
Autores principales: Cui, Xiaoyu, Li, Na, Xue, Hong, Zhang, Fang, Shu, Jianbo, Liu, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9357993/
https://www.ncbi.nlm.nih.gov/pubmed/35958171
http://dx.doi.org/10.3389/fped.2022.926793
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author Cui, Xiaoyu
Li, Na
Xue, Hong
Zhang, Fang
Shu, Jianbo
Liu, Yang
author_facet Cui, Xiaoyu
Li, Na
Xue, Hong
Zhang, Fang
Shu, Jianbo
Liu, Yang
author_sort Cui, Xiaoyu
collection PubMed
description Hyperammonemia is a serious complication of methylmalonic acidemia, with high mortality and permanent neurological sequelae in survivors. Primary hospitals are often the first admission hospitals for these children but are limited by their experience and facilities to provide rapid and effective treatment, increasing the risk of death in children with methylmalonic acidemia's metabolic crisis. In this report, we reported a case of a 7-day-old male neonate with decompensated methylmalonic acidemia, who underwent automatic peripheral arteriovenous exchange transfusion. The serum ammonia level of the boy decreased significantly post exchange transfusion. Therefore, we put forward the suggestion of exchange transfusion for hyperammonemia, in combination with medical therapy, in children with inborn errors of metabolism as an initial treatment option in primary hospitals if a rapid transfer to a center with dialysis facilities is not possible.
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spelling pubmed-93579932022-08-10 Case report: Is exchange transfusion a possible treatment for metabolic decompensation in neonates with methylmalonic aciduria in the setting of limited resources? Cui, Xiaoyu Li, Na Xue, Hong Zhang, Fang Shu, Jianbo Liu, Yang Front Pediatr Pediatrics Hyperammonemia is a serious complication of methylmalonic acidemia, with high mortality and permanent neurological sequelae in survivors. Primary hospitals are often the first admission hospitals for these children but are limited by their experience and facilities to provide rapid and effective treatment, increasing the risk of death in children with methylmalonic acidemia's metabolic crisis. In this report, we reported a case of a 7-day-old male neonate with decompensated methylmalonic acidemia, who underwent automatic peripheral arteriovenous exchange transfusion. The serum ammonia level of the boy decreased significantly post exchange transfusion. Therefore, we put forward the suggestion of exchange transfusion for hyperammonemia, in combination with medical therapy, in children with inborn errors of metabolism as an initial treatment option in primary hospitals if a rapid transfer to a center with dialysis facilities is not possible. Frontiers Media S.A. 2022-07-25 /pmc/articles/PMC9357993/ /pubmed/35958171 http://dx.doi.org/10.3389/fped.2022.926793 Text en Copyright © 2022 Cui, Li, Xue, Zhang, Shu and Liu. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Cui, Xiaoyu
Li, Na
Xue, Hong
Zhang, Fang
Shu, Jianbo
Liu, Yang
Case report: Is exchange transfusion a possible treatment for metabolic decompensation in neonates with methylmalonic aciduria in the setting of limited resources?
title Case report: Is exchange transfusion a possible treatment for metabolic decompensation in neonates with methylmalonic aciduria in the setting of limited resources?
title_full Case report: Is exchange transfusion a possible treatment for metabolic decompensation in neonates with methylmalonic aciduria in the setting of limited resources?
title_fullStr Case report: Is exchange transfusion a possible treatment for metabolic decompensation in neonates with methylmalonic aciduria in the setting of limited resources?
title_full_unstemmed Case report: Is exchange transfusion a possible treatment for metabolic decompensation in neonates with methylmalonic aciduria in the setting of limited resources?
title_short Case report: Is exchange transfusion a possible treatment for metabolic decompensation in neonates with methylmalonic aciduria in the setting of limited resources?
title_sort case report: is exchange transfusion a possible treatment for metabolic decompensation in neonates with methylmalonic aciduria in the setting of limited resources?
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9357993/
https://www.ncbi.nlm.nih.gov/pubmed/35958171
http://dx.doi.org/10.3389/fped.2022.926793
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