{"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":1782727633108,"version":"3.54.5"},"reference-count":8,"publisher":"Walter de Gruyter GmbH","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,10,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2020-0117_abs_001_w2aab3b7c24b1b6b1aab1c16b1Aa\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Carbonic anhydrase VA (CAVA) deficiency is a rare autosomal recessive inborn error of metabolism that leads to acute metabolic crises, especially in the neonatal or infantile period. It is caused by a deficiency of the enzyme CAVA, which is encoded by the <jats:italic>CA5A<\/jats:italic> gene.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0117_abs_002_w2aab3b7c24b1b6b1aab1c16b2Aa\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>Fifteen patients with homozygous pathogenic <jats:italic>CA5A<\/jats:italic> mutations involving 10 different lesions have been reported in the literature up to date. Main clinical and biochemical features of CAVA deficiency include lethargy, hyperammonemic encephalopathy, metabolic acidosis, elevated lactate and hypoglycemia. In most patients reported so far, a single metabolic decompensation attack has been reported, and they have remained stable thereafter with no further crisis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0117_abs_003_w2aab3b7c24b1b6b1aab1c16b3Aa\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>We report the 16th case of CAVA deficiency, who was diagnosed by whole-exome sequencing and showed a typical course of the disease with normal development at 18\u00a0months.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2020-0117","type":"journal-article","created":{"date-parts":[[2020,9,30]],"date-time":"2020-09-30T21:45:42Z","timestamp":1601502342000},"page":"1349-1352","source":"Crossref","is-referenced-by-count":15,"title":["Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy"],"prefix":"10.1515","volume":"33","author":[{"given":"Asburce","family":"Olgac","sequence":"first","affiliation":[{"name":"Department of Pediatric Metabolism , Dr. Sami Ulus Maternity and Child Health Training and Research Hospital , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cigdem Seher","family":"Kasapkara","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism , Dr. Sami Ulus Maternity and Child Health Training and Research Hospital , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustafa","family":"Kilic","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism , Dr. Sami Ulus Maternity and Child Health Training and Research Hospital , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ebru Y\u0131lmaz","family":"Keskin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology , S\u00fcleyman Demirel University Medical Faculty , Isparta , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gonca","family":"Sandal","sequence":"additional","affiliation":[{"name":"Department of Neonatology , S\u00fcleyman Demirel University Medical Faculty , Isparta , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David Stephen","family":"Cram","sequence":"additional","affiliation":[{"name":"Berry Genomics Corporation , Beijing , 100015 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Haberle","sequence":"additional","affiliation":[{"name":"Division of Metabolism and Children\u2019s Research Center , University Children\u2019s Hospital Zurich , Zurich , Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deniz","family":"Torun","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Gulhane Faculty of Medicine, University of Health Sciences , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2020,8,18]]},"reference":[{"key":"2023040101055564592_j_jpem-2020-0117_ref_001_w2aab3b7c24b1b6b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"Nagao, Y, Batanian, JR, Clemente, MF, Sly, WS. Genomic organization of the human gene (CA5) and pseudogene for mitochondrial carbonic anhydrase V and their localization to chromosomes 16q and 16p. Genomics 1995;28:477\u201384. https:\/\/doi.org\/10.1006\/geno.1995.1177.","DOI":"10.1006\/geno.1995.1177"},{"key":"2023040101055564592_j_jpem-2020-0117_ref_002_w2aab3b7c24b1b6b1ab2b1b2Aa","doi-asserted-by":"crossref","unstructured":"Baertling, F, Wagner, M, Brunet, T, Sabir, H, Wieczorek, D, Meitinger, T, et al. Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia. Genet Med 2020;22:654\u20135. https:\/\/doi.org\/10.1038\/s41436-019-0677-9.","DOI":"10.1038\/s41436-019-0677-9"},{"key":"2023040101055564592_j_jpem-2020-0117_ref_003_w2aab3b7c24b1b6b1ab2b1b3Aa","doi-asserted-by":"crossref","unstructured":"Van Karnebeek, CD, Sly, WS, Ross, CJ, Salvarinova, R, Yaplito-Lee, J, Santra, S, et al. Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. Am J Hum Genet 2014;94:453\u201361. https:\/\/doi.org\/10.1016\/j.ajhg.2014.01.006.","DOI":"10.1016\/j.ajhg.2014.01.006"},{"key":"2023040101055564592_j_jpem-2020-0117_ref_004_w2aab3b7c24b1b6b1ab2b1b4Aa","doi-asserted-by":"crossref","unstructured":"Diez-Fernandez, C, R\u00fcfenacht, V, Santra, S, Lund, AM, Santer, R, Lindner, M, et al. Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. Genet Med 2016;18:999\u20131000. https:\/\/doi.org\/10.1038\/gim.2015.201.","DOI":"10.1038\/gim.2015.201"},{"key":"2023040101055564592_j_jpem-2020-0117_ref_005_w2aab3b7c24b1b6b1ab2b1b5Aa","doi-asserted-by":"crossref","unstructured":"H\u00e4berle, J, Burlina, A, Chakrapani, A, Dixon, M, Karall, D, Lindner, M, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision. J Inherit Metab Dis 2019;42:1192\u2013230. https:\/\/doi.org\/10.1002\/jimd.12100.","DOI":"10.1002\/jimd.12100"},{"key":"2023040101055564592_j_jpem-2020-0117_ref_006_w2aab3b7c24b1b6b1ab2b1b6Aa","doi-asserted-by":"crossref","unstructured":"Tashian, RE. The carbonic anhydrases: widening perspectives on their evolution, expression and function. Bioessays 1989;10:186\u201392. https:\/\/doi.org\/10.1002\/bies.950100603.","DOI":"10.1002\/bies.950100603"},{"key":"2023040101055564592_j_jpem-2020-0117_ref_007_w2aab3b7c24b1b6b1ab2b1b7Aa","doi-asserted-by":"crossref","unstructured":"Supuran, CT. Structure and function of carbonic anhydrases. Biochem J 2016;473:2023\u201332. https:\/\/doi.org\/10.1042\/bcj20160115.","DOI":"10.1042\/BCJ20160115"},{"key":"2023040101055564592_j_jpem-2020-0117_ref_008_w2aab3b7c24b1b6b1ab2b1b8Aa","doi-asserted-by":"crossref","unstructured":"Sly, WS, Hu, PY. Human carbonic anhydrases and carbonic anhydrase deficiencies. 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