Cargando…
Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiency
Carbonic anhydrase VA deficiency is a recently described inherited cause of paediatric hyperammonaemia. Most published cases describe patients with only one episode of hyperammonaemia whilst others report patients who had up to three metabolic crises with the first invariably being the most severe....
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626664/ https://www.ncbi.nlm.nih.gov/pubmed/36341166 http://dx.doi.org/10.1002/jmd2.12322 |
_version_ | 1784822787381133312 |
---|---|
author | Stockdale, Christopher Bowron, Ann Appleton, Marie Richardson, Ruth Anderson, Mark |
author_facet | Stockdale, Christopher Bowron, Ann Appleton, Marie Richardson, Ruth Anderson, Mark |
author_sort | Stockdale, Christopher |
collection | PubMed |
description | Carbonic anhydrase VA deficiency is a recently described inherited cause of paediatric hyperammonaemia. Most published cases describe patients with only one episode of hyperammonaemia whilst others report patients who had up to three metabolic crises with the first invariably being the most severe. We describe a patient with carbonic anhydrase VA deficiency who experienced 7 hyperammonemic episodes over a 3‐year period, up to age 5 years 9 months. These episodes did not clearly decrease in severity over time. This report expands the clinical phenotype and the age window for metabolic crises associated with this condition. |
format | Online Article Text |
id | pubmed-9626664 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | John Wiley & Sons, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-96266642022-11-03 Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiency Stockdale, Christopher Bowron, Ann Appleton, Marie Richardson, Ruth Anderson, Mark JIMD Rep Case Reports Carbonic anhydrase VA deficiency is a recently described inherited cause of paediatric hyperammonaemia. Most published cases describe patients with only one episode of hyperammonaemia whilst others report patients who had up to three metabolic crises with the first invariably being the most severe. We describe a patient with carbonic anhydrase VA deficiency who experienced 7 hyperammonemic episodes over a 3‐year period, up to age 5 years 9 months. These episodes did not clearly decrease in severity over time. This report expands the clinical phenotype and the age window for metabolic crises associated with this condition. John Wiley & Sons, Inc. 2022-08-10 /pmc/articles/PMC9626664/ /pubmed/36341166 http://dx.doi.org/10.1002/jmd2.12322 Text en © 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://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 Stockdale, Christopher Bowron, Ann Appleton, Marie Richardson, Ruth Anderson, Mark Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiency |
title | Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiency |
title_full | Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiency |
title_fullStr | Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiency |
title_full_unstemmed | Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiency |
title_short | Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiency |
title_sort | recurrent hyperammonaemia in a patient with carbonic anhydrase va deficiency |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626664/ https://www.ncbi.nlm.nih.gov/pubmed/36341166 http://dx.doi.org/10.1002/jmd2.12322 |
work_keys_str_mv | AT stockdalechristopher recurrenthyperammonaemiainapatientwithcarbonicanhydrasevadeficiency AT bowronann recurrenthyperammonaemiainapatientwithcarbonicanhydrasevadeficiency AT appletonmarie recurrenthyperammonaemiainapatientwithcarbonicanhydrasevadeficiency AT richardsonruth recurrenthyperammonaemiainapatientwithcarbonicanhydrasevadeficiency AT andersonmark recurrenthyperammonaemiainapatientwithcarbonicanhydrasevadeficiency |