{"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":1782727633123,"version":"3.54.5"},"reference-count":11,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T00:00:00Z","timestamp":1719792000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Carbonic anhydrase 5A (<jats:italic>CA5A<\/jats:italic>) belongs to a family of carbonic anhydrases which are zinc metalloenzymes involved in the reversible hydration of CO<jats:sub>2<\/jats:sub> to bicarbonate. Mutations in <jats:italic>CA5A<\/jats:italic> are very rare and known to cause Carbonic anhydrase 5A deficiency (CA5AD), an autosomal recessive inborn error of metabolism characterized clinically by acute onset of encephalopathy in infancy or early childhood. <jats:italic>CA5A<\/jats:italic> also has two very identical pseudogenes whose interference may result in compromised accuracy in targeted sequencing. We report a unique case of CA5AD caused by compound heterozygous variant (NM_001739.2: c.721G&gt;A: p.Glu241Lys &amp; NM_001739.2: c.619\u20103420_c.774\u2009+\u2009502del4078bp) in an infant in order to expand the phenotypic spectrum and underscore the impact of pseudogenes, which can introduce complexities in molecular genetic analysis.<\/jats:p>","DOI":"10.1002\/ajmg.a.63809","type":"journal-article","created":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T10:39:50Z","timestamp":1719830390000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A unique case of hyperammonemia due to <scp>CA5A<\/scp> deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletion"],"prefix":"10.1002","volume":"194","author":[{"given":"Rohan Peter","family":"Mathew","sequence":"first","affiliation":[{"name":"BRIC\u2010Centre for DNA Fingerprinting and Diagnostics  Hyderabad India"},{"name":"Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prashanth","family":"Ranya Raghavendra","sequence":"additional","affiliation":[{"name":"KEM Hospital  Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Biradar","family":"Disha","sequence":"additional","affiliation":[{"name":"BRIC\u2010Centre for DNA Fingerprinting and Diagnostics  Hyderabad India"},{"name":"Regional Centre for Biotechnology  Faridabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashwin","family":"Dalal","sequence":"additional","affiliation":[{"name":"BRIC\u2010Centre for DNA Fingerprinting and Diagnostics  Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0860-5592","authenticated-orcid":false,"given":"Periyasamy","family":"Govindaraj","sequence":"additional","affiliation":[{"name":"BRIC\u2010Centre for DNA Fingerprinting and Diagnostics  Hyderabad India"},{"name":"Department of Neuropathology National Institute of Mental Health and Neurosciences (NIMHANS)  Bengaluru India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,7]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.201"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-023-04818-z"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebr.2022.100573"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12171"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/hvab112"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.1177"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2020-0117"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms232315026"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jgg.2021.02.009"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ab.2015.05.021"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.01.006"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63809","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,2]],"date-time":"2024-12-02T09:42:28Z","timestamp":1733132548000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63809"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7]]},"references-count":11,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1002\/ajmg.a.63809"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63809","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7]]},"assertion":[{"value":"2024-04-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-22","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63809"}}