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Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiency
Christopher Stockdale1, Ann Bowron1, Marie Appleton1
1Department of Blood Sciences Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK.
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.
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