ArticleJIMD reports2022
Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiency.
Article in JIMD reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 3 citations in OpenAlex.
- Long-Term Follow-Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review.JIMD reports · 2026Article
- Article
- Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency.JIMD reports · 2026Article
- A novel homozygous CA5A gene deletion in carbonic anhydrase VA deficiency presenting as developmental delay without metabolic crisis.Molecular genetics and metabolism reports · 2026Article
- Carbonic anhydrase VA deficiency due to a novelMolecular genetics and metabolism reports · 2025Article
- Article
- A founder mutation inJIMD reports · 2024Article
- Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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