{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T15:29:49Z","timestamp":1783178989033,"version":"3.54.6"},"reference-count":7,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2022,11,30]],"date-time":"2022-11-30T00:00:00Z","timestamp":1669766400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"the state assignment of Ministry of Science and Higher Education of the Russian Federation for RCMG"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Hyperammonemia due to carbonic anhydrase VA deficiency (OMIM# 615751) is a rare, life-threatening hereditary disease caused by biallelic mutations in the CA5A gene, presenting as encephalopathic hyperammonemia of unexplained origin during the neonatal period and infancy. Here, we present a detailed description of a 5-year-old patient with the homozygous mutation p.Lys185Lys (c.555G&gt;A) in the CA5A gene. This variant was previously described by van Karnebeek et al. in 2014 in a boy of Russian origin. We found a high frequency of carriers of this mutation in Russia; 1:213, which is 7 times higher than the expected frequency calculated based on data on Western European populations. Thus, targeted testing for the mutation p.Lys185Lys (c.555G&gt;A) in the CA5A gene should be useful for early detection by selective screening in neonatal intensive care units.<\/jats:p>","DOI":"10.3390\/ijms232315026","type":"journal-article","created":{"date-parts":[[2022,11,30]],"date-time":"2022-11-30T05:45:22Z","timestamp":1669787122000},"page":"15026","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G&gt;A) of the CA5A Gene"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7041-045X","authenticated-orcid":false,"given":"Natalia","family":"Semenova","sequence":"first","affiliation":[{"name":"Research Centre for Medical Genetics, Moscow 115522, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0972-5118","authenticated-orcid":false,"given":"Andrey","family":"Marakhonov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moscow 115522, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Ampleeva","sequence":"additional","affiliation":[{"name":"Independent Clinical Bioinformatics Laboratory, Moscow 123181, Russia"},{"name":"Master\u2019s Programme \u201cData Analysis in Biology and Medicine\u201d, National Research University \u201cHigher School of Economics\u201d, Moscow 101000, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Kurkina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moscow 115522, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Galina","family":"Baydakova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moscow 115522, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikhail","family":"Skoblov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moscow 115522, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Taran","sequence":"additional","affiliation":[{"name":"Federal Research Centre of Nutrition and Biotechnology, Moscow 115446, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Babak","sequence":"additional","affiliation":[{"name":"Perinatal Center at City Clinical Hospital No. 24, Moscow 127287, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekaterina","family":"Shchukina","sequence":"additional","affiliation":[{"name":"Perinatal Center at City Clinical Hospital No. 24, Moscow 127287, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatyana","family":"Strokova","sequence":"additional","affiliation":[{"name":"Federal Research Centre of Nutrition and Biotechnology, Moscow 115446, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/j.ajhg.2014.01.006","article-title":"Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood","volume":"94","author":"Sly","year":"2014","journal-title":"Am. 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