{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T01:28:39Z","timestamp":1789176519622,"version":"build-2803163510"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T00:00:00Z","timestamp":1711584000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T00:00:00Z","timestamp":1711584000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001734","name":"Copenhagen University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001734","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Glucose-6-phosphate isomerase deficiency is a rare genetic disorder causing hereditary nonspherocytic hemolytic anemia. It is the second most common glycolytic enzymopathy in red blood cells. About 90 cases are reported worldwide, with symptoms including chronic hemolytic anemia, jaundice, splenomegaly, gallstones, cholecystitis, and in severe cases, neurological impairments, hydrops fetalis, and neonatal death.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>This paper details the case of the first Danish patient diagnosed with glucose-6-phosphate isomerase deficiency. The patient, a 27-year-old white female, suffered from lifelong anemia of unknown origin for decades. Diagnosis was established through whole-genome sequencing, which identified two <jats:italic>GPI<\/jats:italic> missense variants: the previously documented variant p.(Thr224Met) and a newly discovered variant p.(Tyr341Cys). The pathogenicity of these variants was verified enzymatically.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Whole-genome sequencing stands as a potent tool for identifying hereditary anemias, ensuring optimal management strategies.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13256-024-04466-7","type":"journal-article","created":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T01:30:42Z","timestamp":1711589442000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case report"],"prefix":"10.1186","volume":"18","author":[{"given":"Sissel","family":"Holme","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"van Wijk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas \u00d8rslev","family":"Rasmussen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jesper","family":"Petersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2082-0738","authenticated-orcid":false,"given":"Andreas","family":"Glenth\u00f8j","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,3,28]]},"reference":[{"issue":"1","key":"4466_CR1","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1053\/beha.1999.0059","volume":"13","author":"W Kugler","year":"2000","unstructured":"Kugler W, Lakomek M. Glucose-6-phosphate isomerase deficiency. Best Pract Res Clin Haematol. 2000;13(1):89\u2013101. https:\/\/doi.org\/10.1053\/beha.1999.0059.","journal-title":"Best Pract Res Clin Haematol"},{"issue":"3","key":"4466_CR2","doi-asserted-by":"publisher","first-page":"388","DOI":"10.1111\/ijlh.12223","volume":"36","author":"P Koralkova","year":"2014","unstructured":"Koralkova P, Van Solinge WW, Van Wijk R. Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis. Int J Lab Hematol. 2014;36(3):388\u201397. https:\/\/doi.org\/10.1111\/ijlh.12223.","journal-title":"Int J Lab Hematol"},{"issue":"10","key":"4466_CR3","doi-asserted-by":"publisher","first-page":"862","DOI":"10.1002\/ccr3.358","volume":"3","author":"PN van Scheltema","year":"2015","unstructured":"van Scheltema PN, Zhang A, Ball LM, et al. Successful treatment of fetal hemolytic disease due to glucose phosphate isomerase deficiency ( GPI ) using repeated intrauterine transfusions: a case report. Clin Case Rep. 2015;3(10):862\u20135. https:\/\/doi.org\/10.1002\/ccr3.358.","journal-title":"Clin Case Rep"},{"key":"4466_CR4","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1182\/blood.V32.2.236.236","volume":"32","author":"MA Baughan","year":"1968","unstructured":"Baughan MA, Valentine WN, Paglia DE, Ways PO, Simons ER, Demarsh QB. Hereditary hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency-a new enzyme defect of human erythrocytes. Blood. 1968;32:236.","journal-title":"Blood"},{"issue":"1","key":"4466_CR5","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1186\/s12887-022-03522-9","volume":"22","author":"Y Zu","year":"2022","unstructured":"Zu Y, Wang H, Lin W, Zou C. Hereditary nonspherocytic hemolytic anemia caused by glucose-6-phosphate isomerase (GPI) deficiency in a Chinese patient: a case report. BMC Pediatr. 2022;22(1):461. https:\/\/doi.org\/10.1186\/s12887-022-03522-9.","journal-title":"BMC Pediatr"},{"key":"4466_CR6","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2019.00467","author":"E Fermo","year":"2019","unstructured":"Fermo E, Vercellati C, Marcello AP, et al. Clinical and molecular spectrum of glucose-6-phosphate isomerase deficiency report of 12 new cases. Front Physiol. 2019. https:\/\/doi.org\/10.3389\/fphys.2019.00467.","journal-title":"Front Physiol"},{"key":"4466_CR7","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2020.569289","author":"WR Van","year":"2020","unstructured":"Van WR, Fermo E, Glenth\u00f8j A, et al. Improving the EMA binding test by using commercially available fluorescent beads. Published Online. 2020. https:\/\/doi.org\/10.3389\/fphys.2020.569289.","journal-title":"Published Online"},{"key":"4466_CR8","doi-asserted-by":"publisher","DOI":"10.1002\/jha2.277","author":"A Glenth\u00f8j","year":"2021","unstructured":"Glenth\u00f8j A, Brieghel C, Nardo-Marino A, et al. Facilitating EMA binding test performance using fluorescent beads combined with next-generation sequencing. Published online. 2021. https:\/\/doi.org\/10.1002\/jha2.277.","journal-title":"Published online"},{"key":"4466_CR9","doi-asserted-by":"publisher","DOI":"10.1016\/j.lrr.2013.09.002","author":"M Nygaard","year":"2013","unstructured":"Nygaard M, Petersen J, Bjerrum OW. Haemoglobinopathia Ypsilanti-A rare, but important differential diagnosis to polycythaemia vera. 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Eur J Hum Genet. 2013;10(17):580\u20134. https:\/\/doi.org\/10.1038\/ejhg.2013.46.","journal-title":"Eur J Hum Genet"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-024-04466-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13256-024-04466-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-024-04466-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T01:38:15Z","timestamp":1711589895000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-024-04466-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,28]]},"references-count":17,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["4466"],"URL":"https:\/\/doi.org\/10.1186\/s13256-024-04466-7","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,28]]},"assertion":[{"value":"13 September 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 February 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 March 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was approved by the Regional Ethics Committee of the Capital Region of Denmark (H-21064560).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare the following conflicts of interest: AG: consultant for Agios Pharmaceuticals, Inc., Bristol Myers Squibb, Novartis Pharmaceuticals, Novo Nordisk A\/S, Pharmacosmos UK Ltd, and Vertex Pharmaceuticals. Received research support from Agios Pharmaceuticals, Inc., Novo Nordisk A\/S, Saniona, and Sanofi. RvW: consultant for Agios Pharmaceuticals. Research funding from Agios Pharmaceuticals and Pfizer. All other authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"130"}}