{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T10:07:13Z","timestamp":1782727633607,"version":"3.54.5"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T00:00:00Z","timestamp":1771804800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T00:00:00Z","timestamp":1771804800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Carbonic anhydrase VA (CAVA) deficiency (OMIM 114761) is an ultra\u2010rare inborn error of metabolism with fewer than 20 cases described. Affected infants present in the first days of life with hyperammonaemia, lactic acidosis, ketonaemia and encephalopathy. Prenatal genetic testing can facilitate the diagnosis of subsequent affected pregnancies and permit proactive clinical management to prevent metabolic decompensation. Here we describe the clinical course of two sibling infants antenatally diagnosed with CAVA deficiency who were monitored and managed in the newborn period without decompensation. The proband, their older brother, had presented on day four of life with marked lactic acidosis, hyperammonaemia and encephalopathy requiring haemofiltration due to CAVA deficiency. His brothers were each born in a tertiary neonatal setting. They were managed with regular 3\u20134 hourly breastfeeds with supplementary expressed breast milk and formula top\u2010ups to ensure optimal nutrition. In addition, they received carglumic acid (100\u2009mg\/kg daily) for 5\u2009days. Regular biochemical monitoring was undertaken with measurement of acid\u2013base status and ammonia levels. In contrast to their older brother, these male siblings had unremarkable neonatal periods with no significant clinical or biochemical concerns, demonstrating that in a neonate known to be affected with CAVA deficiency, early intervention can be instituted to minimise the risk of metabolic decompensation in the neonatal period.<\/jats:p>","DOI":"10.1002\/jmd2.70076","type":"journal-article","created":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T21:31:39Z","timestamp":1773005499000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase\n                    <scp>VA<\/scp>\n                    Deficiency"],"prefix":"10.1002","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-0419-2326","authenticated-orcid":false,"given":"Sophie","family":"Manoy","sequence":"first","affiliation":[{"name":"Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital  Brisbane Australia"},{"name":"School of Medicine The University of Queensland  Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tahlee","family":"Minto","sequence":"additional","affiliation":[{"name":"Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital  Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kalliope","family":"Demetriou","sequence":"additional","affiliation":[{"name":"Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital  Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Lynch","sequence":"additional","affiliation":[{"name":"Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital  Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3073-2555","authenticated-orcid":false,"given":"Arthavan","family":"Selvanathan","sequence":"additional","affiliation":[{"name":"Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital  Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luke","family":"Jardine","sequence":"additional","affiliation":[{"name":"School of Medicine The University of Queensland  Brisbane Australia"},{"name":"Department of Neonatology Mater Mothers Hospital  Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Lipke","sequence":"additional","affiliation":[{"name":"Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital  Brisbane 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Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6303-6471","authenticated-orcid":false,"given":"David","family":"Coman","sequence":"additional","affiliation":[{"name":"Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital  Brisbane Australia"},{"name":"School of Medicine The University of Queensland  Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,2,23]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.01.006"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.201"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2020-0117"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12171"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2020.04.007"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12322"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0677-9"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_12_10_1","volume-title":"GeneReviews()","author":"Karnebeek 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Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.70076","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jmd2.70076","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.70076","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T07:20:22Z","timestamp":1774509622000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.70076"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,23]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["10.1002\/jmd2.70076"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.70076","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"value":"2192-8312","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,23]]},"assertion":[{"value":"2025-07-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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