{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T14:50:31Z","timestamp":1789051831912,"version":"build-2803163510"},"reference-count":9,"publisher":"Georg Thieme Verlag KG","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Z Geburtshilfe Neonatol"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mitochondrial respiratory chain dysfunction and impaired oxidative\n                    phosphorylation are rare but significant causes of mitochondrial diseases in\n                    children, presenting with diverse clinical features. Combined oxidative\n                    phosphorylation deficiency type 23 (COXPD23), an autosomal recessive disorder\n                    due to GTPBP3 gene mutations, typically manifests as lactic acidosis,\n                    hypertrophic cardiomyopathy, and encephalopathy. This case report describes a\n                    male infant born at 35 weeks gestation, who exhibited severe lactic aciduria and\n                    hypotonia but no cardiomyopathy, which is atypical for COXPD23. Genetic analysis\n                    revealed a novel homozygous missense variant in the GTPBP3 gene. Despite\n                    intensive metabolic and supportive treatments, the patient\u02bcs condition worsened,\n                    leading to death on the 23rd day. This case emphasizes the need to consider\n                    mitochondrial cytopathies in neonates with persistent metabolic acidosis and\n                    hyperlactatemia and highlights the importance of early genetic screening for\n                    accurate diagnosis and management.<\/jats:p>","DOI":"10.1055\/a-2465-3661","type":"journal-article","created":{"date-parts":[[2024,11,23]],"date-time":"2024-11-23T00:25:24Z","timestamp":1732321524000},"page":"60-62","source":"Crossref","is-referenced-by-count":1,"title":["The rare reason for massive lactic aciduria and mitochondrial\n                    disorders: combined oxidative phosphorylation deficiency type 23\n                    (COXPD23)"],"prefix":"10.1055","volume":"229","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1982-8046","authenticated-orcid":false,"given":"Halil Tuna","family":"Akar","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism, TC Saglik Bakanligi\n                    Ankara Etlik Sehir Hastanesi, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hasan","family":"Akduman","sequence":"additional","affiliation":[{"name":"Department of Neonatology, TC Saglik Bakanligi Ankara\n                    Etlik Sehir Hastanesi, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abd\u00fclkerim","family":"Kolk\u0131ran","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics, TC Saglik Bakanligi\n                    Ankara Etlik Sehir Hastanesi, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elifcan","family":"Ta\u015fadelen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, TC Saglik Bakanligi\n                    Ankara Etlik Sehir Hastanesi, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nur","family":"Aycan","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Van Yuzuncu Yil University,\n                    Van, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2024,11,22]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1146\/annurev-genom-091416-035426","article-title":"Recent advances in mitochondrial disease","volume":"18","author":"L Craven","year":"2017","journal-title":"Annual review of genomics and human genetics"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"611226","DOI":"10.3389\/fgene.2021.611226","article-title":"Novel mutations in the GTPBP3 gene for mitochondrial disease and characteristics\n                    of related phenotypic spectrum: The first three cases from China","volume":"12","author":"H M Yan","year":"2021","journal-title":"Front Genet"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"1495","DOI":"10.4161\/15476286.2014.992269","article-title":"Modification of the wobble uridine in bacterial and mitochondrial tRNAs reading\n                    NNA\/NNG triplets of 2-codon boxes","volume":"11","author":"M E Armengod","year":"2014","journal-title":"RNA Biol"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"708","DOI":"10.1016\/j.ajhg.2014.10.017","article-title":"Mutations in GTPBP3 cause a mitochondrial translation defect associated with\n                    hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy","volume":"95","author":"R Kopajtich","year":"2014","journal-title":"Am J Hum Genet"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"e27199","DOI":"10.1016\/j.heliyon.2024.e27199","article-title":"A novel mutation in GTPBP3 causes combined oxidative phosphorylation deficiency\n                    23 by affecting pre-mRNA splicing","volume":"10","author":"Y Wang","year":"2024","journal-title":"Heliyon"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"552","DOI":"10.3390\/genes14030552","article-title":"Pathogenicity analysis of a novel variant in GTPBP3 causing mitochondrial\n                    disease and systematic literature review","volume":"14","author":"Q Zhang","year":"2023","journal-title":"Genes (Basel)"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint\n                    consensus recommendation of the American College of Medical Genetics and\n                    Genomics and the Association for Molecular Pathology","volume":"17","author":"S Richards","year":"2015","journal-title":"Genet Med"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"e0144273","DOI":"10.1371\/journal.pone.0144273","article-title":"Defective expression of the mitochondrial-tRNA modifying enzyme GTPBP3 triggers\n                    AMPK-mediated adaptive responses involving complex I assembly factors,\n                    uncoupling protein 2, and the mitochondrial pyruvate carrier","volume":"10","author":"A Martinez-Zamora","year":"2015","journal-title":"PloS One"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1002\/acn3.51980","article-title":"Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and\n                    outcome","volume":"11","author":"F Nardecchia","year":"2024","journal-title":"Ann Clin Transl Neurol"}],"container-title":["Zeitschrift f\u00fcr Geburtshilfe und Neonatologie"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2465-3661.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,6]],"date-time":"2025-02-06T23:58:13Z","timestamp":1738886293000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2465-3661"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,22]]},"references-count":9,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2025,2,6]]},"published-print":{"date-parts":[[2025,2]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2465-3661","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0948-2393","1439-1651"],"issn-type":[{"value":"0948-2393","type":"print"},{"value":"1439-1651","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,22]]}}}