{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T10:07:14Z","timestamp":1782727634493,"version":"3.54.5"},"reference-count":6,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,10,1]],"date-time":"2020-10-01T00:00:00Z","timestamp":1601510400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The combination of neonatal hyperammonemia, lactic acidosis, ketonuria, and hypoglycemia is pathognomonic for carbonic anhydrase VA (CA\u2010VA) deficiency. We present two cases of this rare inborn error of metabolism. Both newborns with South Asian ancestry presented with a metabolic decompensation characterized by hyperammonemia, lactic acidosis and ketonuria; one also had hypoglycemia. Standard metabolic investigations (plasma amino acids, acylcarnitine profile, and urine organic acids) were not indicative of a specific organic aciduria or fatty acid oxidation defect but had some overlapping features with a urea cycle disorder (elevated glutamine, orotic acid, and low arginine). Hyperammonemia was treated initially with nitrogen scavenger therapy and carglumic acid. One patient required hemodialysis. Both have had a favorable long\u2010term prognosis after their initial metabolic decompensation. Genetic testing confirmed the diagnosis of carbonic anhydrase VA (CA\u2010VA) deficiency due to biallelic pathogenic variants in <jats:italic>CA5A<\/jats:italic>. These cases are in line with 15 cases previously described in the literature, making the phenotypic presentation pathognomonic for this ultrarare (potentially underdiagnosed) inborn error of metabolism with a good prognosis.<\/jats:p>","DOI":"10.1002\/jmd2.12171","type":"journal-article","created":{"date-parts":[[2020,10,1]],"date-time":"2020-10-01T11:18:40Z","timestamp":1601551120000},"page":"9-14","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Two cases of carbonic anhydrase <scp>VA<\/scp> deficiency\u2014An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome"],"prefix":"10.1002","volume":"57","author":[{"given":"Ashish","family":"Marwaha","sequence":"first","affiliation":[{"name":"Clinical and Metabolic Genetics The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judy","family":"Ibrahim","sequence":"additional","affiliation":[{"name":"Department of Academic Affairs Tawam Hospital  Al Ain Abu Dhabi United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taylor","family":"Rice","sequence":"additional","affiliation":[{"name":"Schulich School of Medicine &amp; Dentistry  London Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Hamwi","sequence":"additional","affiliation":[{"name":"Department of Academic Affairs Tawam Hospital  Al Ain Abu Dhabi United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles Anthony","family":"Rupar","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Western University  London Ontario Canada"},{"name":"Department of Pathology and Laboratory Medicine Western University  London Ontario Canada"},{"name":"Department of Pediatrics Western University  London Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Cresswell","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Grand River Hospital  Kitchener Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chitra","family":"Prasad","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Western University  London Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8491-1095","authenticated-orcid":false,"given":"Andreas","family":"Schulze","sequence":"additional","affiliation":[{"name":"Clinical and Metabolic Genetics The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Department of Pediatrics University of Toronto  Toronto Ontario Canada"},{"name":"Department of Biochemistry University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,10]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.01.006"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.201"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0677-9"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1586\/eem.12.17"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-40337-8_4"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12171","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jmd2.12171","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12171","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,3]],"date-time":"2023-09-03T19:44:32Z","timestamp":1693770272000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.12171"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10]]},"references-count":6,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["10.1002\/jmd2.12171"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.12171","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"value":"2192-8312","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10]]},"assertion":[{"value":"2020-07-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-15","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}