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Urea cycle disorders and indications for liver transplantation

Urea cycle disorders (UCD) are inborn errors of metabolism caused by deficiency of enzymes required to convert nitrogen from ammonia into urea. Current paradigms of treatment focus on dietary manipulations, ammonia scavenger drugs, and liver transplantation. The aim of this study was to describe the...

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Autores principales: García Vega, Marta, Andrade, José D., Morais, Ana, Frauca, Esteban, Muñoz Bartolo, Gema, Lledín, María D., Bergua, Ana, Hierro, Loreto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10020209/
https://www.ncbi.nlm.nih.gov/pubmed/36937980
http://dx.doi.org/10.3389/fped.2023.1103757
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author García Vega, Marta
Andrade, José D.
Morais, Ana
Frauca, Esteban
Muñoz Bartolo, Gema
Lledín, María D.
Bergua, Ana
Hierro, Loreto
author_facet García Vega, Marta
Andrade, José D.
Morais, Ana
Frauca, Esteban
Muñoz Bartolo, Gema
Lledín, María D.
Bergua, Ana
Hierro, Loreto
author_sort García Vega, Marta
collection PubMed
description Urea cycle disorders (UCD) are inborn errors of metabolism caused by deficiency of enzymes required to convert nitrogen from ammonia into urea. Current paradigms of treatment focus on dietary manipulations, ammonia scavenger drugs, and liver transplantation. The aim of this study was to describe the characteristics and indication of liver transplantation in UCD in a tertiary hospital. We performed a retrospective study of children with UCD seen in the period 2000–2021. Data was collected on clinical onset, hyperammonemia severity, evolution and liver transplantation. There were 33 patients in the study period, whose diagnosis were: ornithine transcarbamylase (OTC, n = 20, 10 females), argininosuccinate synthetase (ASS, n = 6), carbamylphosphate synthetase 1 (CPS1, n = 4), argininosuccinate lyase (ASL, n = 2) and N-acetylglutamate synthetase (NAGS, n = 1) deficiency. Thirty one were detected because of clinical symptoms (45% with neonatal onset). The other 2 were diagnosed being presymptomatic, by neonatal/family screening. Neonatal forms (n = 14) were more severe, all of them presented during the first week of life as severe hyperammonemia (mean peak 1,152 µmol/L). Seven patients died (6 at debut) and all survivors received transplantation. There was no mortality among the late forms. Of the 27 patients who did not die in the neonatal period, 16 (59%) received liver transplantationwith 100% survival, normal protein tolerance and usual need of citrulline supplementation. The transplant's metabolic success was accompanied by neurologic sequelae in 69%, but there was no progression of brain damage. Decision of continuous medical treatment in 11 patients appeared to be related with preserved neurodevelopment and fewer metabolic crises.
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spelling pubmed-100202092023-03-18 Urea cycle disorders and indications for liver transplantation García Vega, Marta Andrade, José D. Morais, Ana Frauca, Esteban Muñoz Bartolo, Gema Lledín, María D. Bergua, Ana Hierro, Loreto Front Pediatr Pediatrics Urea cycle disorders (UCD) are inborn errors of metabolism caused by deficiency of enzymes required to convert nitrogen from ammonia into urea. Current paradigms of treatment focus on dietary manipulations, ammonia scavenger drugs, and liver transplantation. The aim of this study was to describe the characteristics and indication of liver transplantation in UCD in a tertiary hospital. We performed a retrospective study of children with UCD seen in the period 2000–2021. Data was collected on clinical onset, hyperammonemia severity, evolution and liver transplantation. There were 33 patients in the study period, whose diagnosis were: ornithine transcarbamylase (OTC, n = 20, 10 females), argininosuccinate synthetase (ASS, n = 6), carbamylphosphate synthetase 1 (CPS1, n = 4), argininosuccinate lyase (ASL, n = 2) and N-acetylglutamate synthetase (NAGS, n = 1) deficiency. Thirty one were detected because of clinical symptoms (45% with neonatal onset). The other 2 were diagnosed being presymptomatic, by neonatal/family screening. Neonatal forms (n = 14) were more severe, all of them presented during the first week of life as severe hyperammonemia (mean peak 1,152 µmol/L). Seven patients died (6 at debut) and all survivors received transplantation. There was no mortality among the late forms. Of the 27 patients who did not die in the neonatal period, 16 (59%) received liver transplantationwith 100% survival, normal protein tolerance and usual need of citrulline supplementation. The transplant's metabolic success was accompanied by neurologic sequelae in 69%, but there was no progression of brain damage. Decision of continuous medical treatment in 11 patients appeared to be related with preserved neurodevelopment and fewer metabolic crises. Frontiers Media S.A. 2023-03-03 /pmc/articles/PMC10020209/ /pubmed/36937980 http://dx.doi.org/10.3389/fped.2023.1103757 Text en © 2023 García Vega, Andrade, Morais, Frauca, Muñoz Bartolo, Lledín, Bergua and Hierro. 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) (https://creativecommons.org/licenses/by/4.0/) . 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
García Vega, Marta
Andrade, José D.
Morais, Ana
Frauca, Esteban
Muñoz Bartolo, Gema
Lledín, María D.
Bergua, Ana
Hierro, Loreto
Urea cycle disorders and indications for liver transplantation
title Urea cycle disorders and indications for liver transplantation
title_full Urea cycle disorders and indications for liver transplantation
title_fullStr Urea cycle disorders and indications for liver transplantation
title_full_unstemmed Urea cycle disorders and indications for liver transplantation
title_short Urea cycle disorders and indications for liver transplantation
title_sort urea cycle disorders and indications for liver transplantation
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10020209/
https://www.ncbi.nlm.nih.gov/pubmed/36937980
http://dx.doi.org/10.3389/fped.2023.1103757
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