{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T04:48:02Z","timestamp":1747198082012,"version":"3.40.5"},"reference-count":23,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2024,1,8]],"date-time":"2024-01-08T00:00:00Z","timestamp":1704672000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,6,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_almed-2023-0102_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Pyruvate carboxylase, a mitochondrial enzyme, catalyses the conversion of glycolytic end-product pyruvate to tricarboxylic acid cycle intermediate, oxaloacetate. Rare pyruvate carboxylase deficiency manifests in three clinical and biochemical phenotypes: neonatal onset type A, infantile onset type B and a benign C type. The objective of this case series is to expand the knowledge of overlapping clinical and biochemical phenotypes of pyruvate carboxylase deficiency.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_almed-2023-0102_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>We report three Sri Lankan neonates including two siblings, of two unrelated families with pyruvate carboxylase deficiency. All three developed respiratory distress within the first few hours of birth. Two siblings displayed typical biochemical findings reported in type B. The other proband with normal citrulline, lysine, moderate lactate, paraventricular cystic lesions, bony deformities, and a novel missense, homozygous variant c.2746G&gt;C [p.(Asp916His)] in the <jats:italic>PC<\/jats:italic> gene, biochemically favoured type A.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_almed-2023-0102_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Our findings indicate the necessity of prompt laboratory investigations in a tachypneic neonate with coexisting metabolic acidosis, as early recognition is essential for patient management and family counselling. Further case studies are required to identify overlapping symptoms and biochemical findings in different types of pyruvate carboxylase deficiency phenotypes.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/almed-2023-0102","type":"journal-article","created":{"date-parts":[[2024,1,4]],"date-time":"2024-01-04T22:10:25Z","timestamp":1704406225000},"page":"205-212","source":"Crossref","is-referenced-by-count":0,"title":["Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency"],"prefix":"10.1515","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6265-0461","authenticated-orcid":false,"given":"Eresha","family":"Jasinge","sequence":"first","affiliation":[{"name":"Department of Chemical Pathology , Lady Ridgeway Hospital for Children , Colombo 8 , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8322-5704","authenticated-orcid":false,"given":"Mihika","family":"Fernando","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology , Lady Ridgeway Hospital for Children , Colombo 8 , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7963-234X","authenticated-orcid":false,"given":"Neluwa-Liyanage Ruwan","family":"Indika","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology , Lady Ridgeway Hospital for Children , Colombo 8 , Sri Lanka"},{"name":"Department of Biochemistry, Faculty of Medical Sciences , University of Sri Jayewardenepura , Nugegoda , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pyara Dilani","family":"Ratnayake","sequence":"additional","affiliation":[{"name":"Department of Neurology , Lady Ridgeway Hospital for Children , Colombo 8 , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nalin","family":"Gamaathige","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit , De Soysa Hospital for Women , Colombo 8 , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ratnanathan","family":"Ratnaranjith","sequence":"additional","affiliation":[{"name":"District General Hospital , Vavuniya , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6515-6944","authenticated-orcid":false,"given":"Sabine","family":"Schroeder","sequence":"additional","affiliation":[{"name":"CENTOGENE AG , Rostock , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7132-7209","authenticated-orcid":false,"given":"Patricia","family":"Jones","sequence":"additional","affiliation":[{"name":"Children\u2019s Medical Center , University of Texas Southwestern Medical Center , Dallas , TX , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Skrahina","family":"Volha","sequence":"additional","affiliation":[{"name":"CENTOGENE AG , Rostock , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7035-8399","authenticated-orcid":false,"given":"Subhashinie","family":"Jayasena","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology , Lady Ridgeway Hospital for Children , Colombo 8 , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4977-3605","authenticated-orcid":false,"given":"Anusha Varuni","family":"Gunaratna","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology , Lady Ridgeway Hospital for Children , Colombo 8 , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-9140-3928","authenticated-orcid":false,"given":"Asitha Niroshana","family":"Bandara Ekanayake","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology , Lady Ridgeway Hospital for Children , Colombo 8 , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arndt","family":"Rolfs","sequence":"additional","affiliation":[{"name":"University of Rostock , Rostock , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2024,1,8]]},"reference":[{"key":"2024062617010169654_j_almed-2023-0102_ref_001","doi-asserted-by":"crossref","unstructured":"Utter, MF, Keech, DB. 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