Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiency
Abstract 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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-11-01
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| Series: | JIMD Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/jmd2.12322 |
| _version_ | 1797991057613389824 |
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| author | Christopher Stockdale Ann Bowron Marie Appleton Ruth Richardson Mark Anderson |
| author_facet | Christopher Stockdale Ann Bowron Marie Appleton Ruth Richardson Mark Anderson |
| author_sort | Christopher Stockdale |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-04-11T08:45:16Z |
| format | Article |
| id | doaj.art-65028c6e89254908abc0799bf889c2d9 |
| institution | Directory Open Access Journal |
| issn | 2192-8312 |
| language | English |
| last_indexed | 2024-04-11T08:45:16Z |
| publishDate | 2022-11-01 |
| publisher | Wiley |
| record_format | Article |
| series | JIMD Reports |
| spelling | doaj.art-65028c6e89254908abc0799bf889c2d92022-12-22T04:33:58ZengWileyJIMD Reports2192-83122022-11-0163653653910.1002/jmd2.12322Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiencyChristopher Stockdale0Ann Bowron1Marie Appleton2Ruth Richardson3Mark Anderson4Department of Blood Sciences Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UKDepartment of Blood Sciences Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UKDepartment of Blood Sciences Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UKNorthern Genetics Service Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UKGreat North Children's Hospital Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UKAbstract 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.https://doi.org/10.1002/jmd2.12322ammoniaCA‐VAhyperammonaemiaurea cycle |
| spellingShingle | Christopher Stockdale Ann Bowron Marie Appleton Ruth Richardson Mark Anderson Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiency JIMD Reports ammonia CA‐VA hyperammonaemia urea cycle |
| 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 | ammonia CA‐VA hyperammonaemia urea cycle |
| url | https://doi.org/10.1002/jmd2.12322 |
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