{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["14(3)"],"submitter":["Carmona-Nunez A"],"pubmed_abstract":["<h4>Background</h4>Congenital methemoglobinemia (metHb), a rare cause of neonatal cyanosis, results from the oxidation of ferrous to ferric iron in hemoglobin (Hb). The aim of this case report is to highlight the need to broaden the differential diagnosis of neonatal cyanosis and emphasizes the role of capillary blood gas analysis and genetic testing to exclude hereditary hematological causes. We report a previously unreported genetic mutation associated with congenital metHb.<h4>Case description</h4>We report the case of a term male neonate with cyanosis unresponsive to oxygen administration. Complementary studies were normal, including echocardiography, cerebral ultrasound, blood tests, blood culture, cytomegalovirus testing, glucose-6-phosphate dehydrogenase (G6PD) assessment, and Hb el"],"journal":["Translational pediatrics"],"pagination":["500-506"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11983008"],"repository":["biostudies-literature"],"pubmed_title":["Case report: neonatal cyanosis secondary to congenital methemoglobinemia, a cause to consider in newborn cyanosis."],"pmcid":["PMC11983008"],"pubmed_authors":["Carmona-Nunez A","Anso Olivan S","Arzuaga Mendez J","Lopez Herrera MC","Astigarraga Aguirre I","Alba Pavon P","Adan Pedroso R","Miguelez Velasco A"],"additional_accession":[]},"is_claimable":false,"name":"Case report: neonatal cyanosis secondary to congenital methemoglobinemia, a cause to consider in newborn cyanosis.","description":"<h4>Background</h4>Congenital methemoglobinemia (metHb), a rare cause of neonatal cyanosis, results from the oxidation of ferrous to ferric iron in hemoglobin (Hb). The aim of this case report is to highlight the need to broaden the differential diagnosis of neonatal cyanosis and emphasizes the role of capillary blood gas analysis and genetic testing to exclude hereditary hematological causes. We report a previously unreported genetic mutation associated with congenital metHb.<h4>Case description</h4>We report the case of a term male neonate with cyanosis unresponsive to oxygen administration. Complementary studies were normal, including echocardiography, cerebral ultrasound, blood tests, blood culture, cytomegalovirus testing, glucose-6-phosphate dehydrogenase (G6PD) assessment, and Hb el","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Mar","modification":"2026-06-01T17:58:07.77Z","creation":"2025-06-26T03:06:14.427Z"},"accession":"S-EPMC11983008","cross_references":{"pubmed":["40225075"],"doi":["10.21037/tp-2024-553"]}}