{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T21:20:26Z","timestamp":1792185626541,"version":"4.4.0"},"reference-count":79,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,12,19]],"date-time":"2022-12-19T00:00:00Z","timestamp":1671408000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2022,12,19]],"date-time":"2022-12-19T00:00:00Z","timestamp":1671408000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["physoc.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Physiology"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Carbonic anhydrase V (CA\u00a0V), a mitochondrial enzyme, was first isolated from guinea\u2010pig liver and subsequently identified in mice and humans. Later, studies revealed that the mouse genome contains two mitochondrial CA sequences, named\n                    <jats:italic>Car5A<\/jats:italic>\n                    and\n                    <jats:italic>Car5B<\/jats:italic>\n                    . The CA\u00a0VA enzyme is most highly expressed in the liver, whereas CA\u00a0VB shows a broad tissue distribution.\n                    <jats:italic>Car5A<\/jats:italic>\n                    knockout mice demonstrated a predominant role for CA\u00a0VA in ammonia detoxification, whereas the roles of CA\u00a0VB in ureagenesis and gluconeogenesis were evident only in the absence of CA\u00a0VA. Previous studies have suggested that CA\u00a0VA is mainly involved in the provision of HCO\n                    <jats:sub>3<\/jats:sub>\n                    <jats:sup>\u2212<\/jats:sup>\n                    for biosynthetic processes. In children, mutations in the\n                    <jats:italic>CA5A<\/jats:italic>\n                    gene led to reduced CA activity, and the enzyme was sensitive to increased temperature. The metabolic profiles of these children showed a reduced supply of HCO\n                    <jats:sub>3<\/jats:sub>\n                    <jats:sup>\u2212<\/jats:sup>\n                    to the enzymes that take part in intermediary metabolism: carbamoylphosphate synthetase, pyruvate carboxylase, propionyl\u2010CoA carboxylase and 3\u2010methylcrotonyl\u2010CoA carboxylase. Although the role of CA\u00a0VB is still poorly understood, a recent study reported that it plays an essential role in human Sertoli cells, which sustain spermatogenesis. Metabolic disease associated with CA\u00a0VA appears to be more common than other inborn errors of metabolism and responds well to treatment with\n                    <jats:italic>N<\/jats:italic>\n                    \u2010carbamyl\u2010\n                    <jats:sc>l<\/jats:sc>\n                    \u2010glutamate. Therefore, early identification of hyperammonaemia will allow specific treatment with\n                    <jats:italic>N<\/jats:italic>\n                    \u2010carbamyl\u2010\n                    <jats:sc>l<\/jats:sc>\n                    \u2010glutamate and prevent neurological sequelae. Carbonic anhydrase VA deficiency should therefore be considered a treatable condition in the differential diagnosis of hyperammonaemia in neonates and young children.\n                    <jats:boxed-text content-type=\"graphic\" position=\"anchor\">\n                      <jats:graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" mimetype=\"image\/png\" position=\"anchor\" specific-use=\"enlarged-web-image\" xlink:href=\"graphic\/tjp15380-gra-0001-m.png\">\n                        <jats:alt-text>image<\/jats:alt-text>\n                      <\/jats:graphic>\n                    <\/jats:boxed-text>\n                  <\/jats:p>","DOI":"10.1113\/jp283579","type":"journal-article","created":{"date-parts":[[2022,12,5]],"date-time":"2022-12-05T00:38:46Z","timestamp":1670200726000},"page":"257-274","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":62,"title":["Mitochondrial carbonic anhydrase VA and VB: properties and roles in health and disease"],"prefix":"10.1113","volume":"601","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6938-7835","authenticated-orcid":false,"given":"Ashok","family":"Aspatwar","sequence":"first","affiliation":[{"name":"Faculty of Medicine and Health Technology Tampere University  Tampere Finland"},{"name":"Fimlab Ltd and Tampere University Hospital  Tampere Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudiu T.","family":"Supuran","sequence":"additional","affiliation":[{"name":"Neurofarba Department Sezione di Chimica Farmaceutica e Nutraceutica Universit\u00e0 degli Studi di Firenze  Sesto Fiorentino Firenze Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdul","family":"Waheed","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Edward A. 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Doisy Research Center Saint Louis University School of Medicine  St Louis MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7323-8536","authenticated-orcid":false,"given":"Seppo","family":"Parkkila","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health Technology Tampere University  Tampere Finland"},{"name":"Fimlab Ltd and Tampere University Hospital  Tampere 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