Chrome Extension
WeChat Mini Program
Use on ChatGLM

Megaloblastic Anemia with Homocystinuria Type Cble: Atypical Presentation in a Pediatric Patient with High Transfusion Requirement and Autoimmune Phenomena

Pediatric blood & cancer(2024)

Cited 0|Views4
No score
Abstract
Pediatric Blood & CancerVolume 71, Issue 4 e30867 LETTER TO THE EDITOR Megaloblastic anemia with homocystinuria type cblE: Atypical presentation in a pediatric patient with high transfusion requirement and autoimmune phenomena Estefania Rossetti, Corresponding Author Estefania Rossetti [email protected] Pediatric Hematology and Oncology Department, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, Argentina Correspondence Estefania Rossetti, Department of Hematology and Oncology, Hospital de Pediatría Juan P. Garrahan, Combate de los Pozos 1881 (C 1245 AAM), Buenos Aires, Argentina. Email: [email protected]Search for more papers by this authorCarolina Pepe, Carolina Pepe Molecular Biology Department, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, ArgentinaSearch for more papers by this authorSilvia Eandi Eberle, Silvia Eandi Eberle Inborn Errors of Metabolism Department, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, ArgentinaSearch for more papers by this authorVeronica Bindi, Veronica Bindi orcid.org/0000-0002-5872-199X Hospital de Pediatría Juan P. Garrahan, Biochemistry Laboratory, Buenos Aires, ArgentinaSearch for more papers by this authorDiego Fernandez, Diego Fernandez Inborn Errors of Metabolism Department, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, ArgentinaSearch for more papers by this authorLeandro Nieto, Leandro Nieto Inborn Errors of Metabolism Department, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, ArgentinaSearch for more papers by this authorMaria Magdalena Gonzalez, Maria Magdalena Gonzalez Inborn Errors of Metabolism Department, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, ArgentinaSearch for more papers by this authorVanesa Avalos, Vanesa Avalos Pediatric Hematology and Oncology Department, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, ArgentinaSearch for more papers by this author Estefania Rossetti, Corresponding Author Estefania Rossetti [email protected] Pediatric Hematology and Oncology Department, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, Argentina Correspondence Estefania Rossetti, Department of Hematology and Oncology, Hospital de Pediatría Juan P. Garrahan, Combate de los Pozos 1881 (C 1245 AAM), Buenos Aires, Argentina. Email: [email protected]Search for more papers by this authorCarolina Pepe, Carolina Pepe Molecular Biology Department, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, ArgentinaSearch for more papers by this authorSilvia Eandi Eberle, Silvia Eandi Eberle Inborn Errors of Metabolism Department, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, ArgentinaSearch for more papers by this authorVeronica Bindi, Veronica Bindi orcid.org/0000-0002-5872-199X Hospital de Pediatría Juan P. Garrahan, Biochemistry Laboratory, Buenos Aires, ArgentinaSearch for more papers by this authorDiego Fernandez, Diego Fernandez Inborn Errors of Metabolism Department, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, ArgentinaSearch for more papers by this authorLeandro Nieto, Leandro Nieto Inborn Errors of Metabolism Department, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, ArgentinaSearch for more papers by this authorMaria Magdalena Gonzalez, Maria Magdalena Gonzalez Inborn Errors of Metabolism Department, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, ArgentinaSearch for more papers by this authorVanesa Avalos, Vanesa Avalos Pediatric Hematology and Oncology Department, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, ArgentinaSearch for more papers by this author First published: 12 January 2024 https://doi.org/10.1002/pbc.30867Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES 1Rosenblatt D, Watkins D. Homocystinuria without methymalonic aciduria. Oprhanet: the portal for rare diseases and orphan drugs; 2012. Google Scholar 2 Online Mendelian inheritance in man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 236270, 05/08/2017. https://omim.org/ Google Scholar 3Huemer M, Diodato D, Schwahn B, et al. Guideline for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblG, cblJ and MTHFR deficiency. J Inherit Metab Dis. 2017; 40(1): 2148. 10.1007/s10545-016-9991-4 Web of Science®Google Scholar 4Vilaseca MA, Vilarinho L, Zavadáková P, et al. CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene. J Inherit Metab Dis. 2003; 26(4): 361-369. 10.1023/A:1025159103257 CASPubMedWeb of Science®Google Scholar 5Zavadáková P, Fowler B, Suormala T, et al. cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. Hum Mutat. 2005; 25(3): 239-247. 10.1002/humu.20131 CASPubMedWeb of Science®Google Scholar 6Schuh S, Rosenblatt DS, Cooper BA, et al. Homocystinuria and megaloblastic anemia responsive to vitamina B-12 therapy. N Engl J Med. 1984; 310: 686-690. 10.1056/NEJM198403153101104 CASPubMedWeb of Science®Google Scholar 7Fowler B, Schutgens RBH, Rosenblatt DS, et al. Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease). J Inherit Metab Dis. 1997; 20: 731-734. 10.1023/A:1005372730310 CASPubMedWeb of Science®Google Scholar 8Zavadáková P, Fowler B, Zeman J, et al. cblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families. J Inherit Metab Dis. 2002; 25: 461-476. 10.1023/A:1021299117308 CASPubMedWeb of Science®Google Scholar 9Watkins D, Rosenblatt DS. Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity. Am J Med Genet. 1989; 34(3): 427-434. 10.1002/ajmg.1320340320 CASPubMedWeb of Science®Google Scholar 10Zavadáková P, Fowler B, Suormala T. cblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families. J Inherit Metab. 2002; 25: 461-476. 10.1023/A:1021299117308 CASPubMedWeb of Science®Google Scholar 11Arakawa Y, Watanabe M, Inoue N, et al. Association of polymorphisms in DNMT1, DNMT3A, DNMT3B, MTHFR and MTRR genes with global DNA methylation levels and prognosis of autoimmune thyroid disease. Clin Exp Immunol. 2012; 170(2): 194-201. 10.1111/j.1365-2249.2012.04646.x CASPubMedWeb of Science®Google Scholar Volume71, Issue4April 2024e30867 ReferencesRelatedInformation
More
Translated text
Key words
Inborn Errors of Metabolism,Fetal Hemoglobin,Transfusion Therapy
AI Read Science
Must-Reading Tree
Example
Generate MRT to find the research sequence of this paper
Chat Paper
Summary is being generated by the instructions you defined