{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T12:47:07Z","timestamp":1777898827084,"version":"3.51.4"},"reference-count":18,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Carbonic anhydrase VA (CA5A) deficiency (OMIM 615751) is an ultra-rare inborn error of metabolism, presenting in newborns, infants, and young children with a pentad of encephalopathy, hyperammonemia, lactic acidosis, ketonuria, and hypoglycemia. We present two cases: a case of a healthy Bedouin infant admitted with hyperammonemic encephalopathy that required urgent hemodialysis, and her younger sibling, who presented with a milder episode. Molecular analysis confirmed the diagnosis of CA5A deficiency due to a homozygous missense variant in the CA5A gene. Both patients had a favorable outcome with continued normal development. These were the first identified cases of CA5A deficiency in the Bedouin population, emphasizing the importance of a high index of suspicion, early genetic consultation and diagnosis, and prompt treatment at the earliest possible stage of a hyperammonemic crisis.<\/jats:p>","DOI":"10.3390\/genes17050537","type":"journal-article","created":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T09:33:17Z","timestamp":1777627997000},"page":"537","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Variant in an Israeli Bedouin Family: The First Reported Cases of Carbonic Anhydrase VA (CA5A) Deficiency in Israel"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-6245-887X","authenticated-orcid":false,"given":"Nitzan","family":"Abelson","sequence":"first","affiliation":[{"name":"Pediatrics Department A, The Cheryl and Haim Saban Children\u2019s Hospital, Soroka University Medical Center, Ben-Gurion University, P.O. Box 151, Beer Sheva 84101, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8275-3633","authenticated-orcid":false,"given":"Eyal","family":"Kristal","sequence":"additional","affiliation":[{"name":"Pediatric Day Hospitalization Unit, The Cheryl and Haim Saban Children\u2019s Hospital, Soroka University Medical Center, Ben-Gurion University, P.O. Box 151, Beer Sheva 84101, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1624-1960","authenticated-orcid":false,"given":"Eli","family":"Hershkovitz","sequence":"additional","affiliation":[{"name":"Pediatrics Department D, The Cheryl and Haim Saban Children\u2019s Hospital, Soroka University Medical Center, Ben-Gurion University, P.O. Box 151, Beer Sheva 84101, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ohad","family":"Wormser","sequence":"additional","affiliation":[{"name":"The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben-Gurion University, P.O. Box 151, Beer Sheva 84101, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8265-6588","authenticated-orcid":false,"given":"Vadim","family":"Dolgin","sequence":"additional","affiliation":[{"name":"The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben-Gurion University, P.O. Box 151, Beer Sheva 84101, Israel"},{"name":"Genetics Institute, Soroka University Medical Center, P.O. Box 151, Beer Sheva 84101, Israel"},{"name":"The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University, P.O. Box 151, Beer Sheva 84101, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shirly","family":"Amar","sequence":"additional","affiliation":[{"name":"Genetics Institute, Soroka University Medical Center, P.O. Box 151, Beer Sheva 84101, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6975-4909","authenticated-orcid":false,"given":"Orna","family":"Staretz-Chacham","sequence":"additional","affiliation":[{"name":"The Center for Rare Diseases, The Cheryl and Haim Saban Children\u2019s Hospital, Soroka University Medical Center, Ben-Gurion University, P.O. Box 151, Beer Sheva 84101, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,5,1]]},"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. J. Hum. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1515\/jpem-2020-0117","article-title":"Carbonic anhydrase VA deficiency: A very rare case of hyperammonemic encephalopathy","volume":"33","author":"Olgac","year":"2020","journal-title":"J. Pediatr. Endocrinol. 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