Mitochondrial Carbonic Anhydrase VA Deficiency in Neonatal Hyperammonemic Encephalopathy - Case Report

Date of submission: 09-06-2020 | Date of acceptance: 19-10-2020 | Published: 03-04-2021


  • Sílvia Sequeira Unidade de Doenças Metabólicas, Serviço de Pediatria, Hospital de Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa, Portugal


Hyperammonemia may be a life threatening disorder, secondary to several different etiologies namely urea cycle defects and organic acidurias. Mitochondrial carbonic anhydrase VA (CA-VA) deficiency, a recently recognized metabolic disorder, results from abnormalities in the CA5A gene. This gene plays an important role in ureagenesis and gluconeogenesis resulting in secondary deficiency of several carboxylases and presenting as neonatal hyperammonemic encephalopathy. We describe an almost 5-year-old boy who presented neonatal encephalopathy secondary to hyperammonemia in whom CA-VA deficiency was identified and emphasize the fact that he has normal growth and development despite no diet or medication for several years. We report this case as less than twenty patients have been described in the literature.


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