تقرير
Delayed Diagnosis of Cobalamin E Defect in an Adolescent Patient.
العنوان: | Delayed Diagnosis of Cobalamin E Defect in an Adolescent Patient. |
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المؤلفون: | Yekedüz MK; Department of Pediatric Metabolism, Faculty of Medicine, Ankara University, Ankara, Turkey., Ince EU; Department of Pediatric Hematology, Faculty of Medicine, Ankara University, Ankara, Turkey., İleri T; Department of Pediatric Hematology, Faculty of Medicine, Ankara University, Ankara, Turkey., Ertem M; Department of Pediatric Hematology, Faculty of Medicine, Ankara University, Ankara, Turkey., Eminoğlu FT; Department of Pediatric Metabolism, Faculty of Medicine, Ankara University, Ankara, Turkey. |
المصدر: | Journal of pediatric neurosciences [J Pediatr Neurosci] 2020 Apr-Jun; Vol. 15 (2), pp. 140-144. Date of Electronic Publication: 2020 Jun 27. |
نوع المنشور: | Case Reports |
اللغة: | English |
بيانات الدورية: | Publisher: Medknow Publications & Media Country of Publication: India NLM ID: 101273794 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1817-1745 (Print) Linking ISSN: 18171745 NLM ISO Abbreviation: J Pediatr Neurosci Subsets: PubMed not MEDLINE |
أسماء مطبوعة: | Original Publication: Mumbai : Medknow Publications & Media |
مستخلص: | Cobalamin and its metabolites play a critical role in deoxyribonucleic acid synthesis. Disorders of cobalamin metabolism are rare and related with neurological and hematological problems. We report an adolescent patient with cobalamin E (CblE) defect presenting with megaloblastic anemia, mental retardation, cerebral atrophy, cortical visual impairment, white matter changes on brain magnetic resonance imaging, and hyperhomocysteinemia. Homozygous mutation at the c.245C>T in exon 3 of the MTRR gene was identified, which had been found to be related to CblE defect. He was treated with betaine, folic acid, vitamin B6, riboflavin, hydroxycobalamin (OH-B Competing Interests: There are no conflicts of interest. (Copyright: © 2020 Journal of Pediatric Neurosciences.) |
References: | Blood. 1987 Apr;69(4):1128-33. (PMID: 3828532) Arch Biochem Biophys. 1979 May;194(2):632-4. (PMID: 443824) Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):33-44. (PMID: 21312325) J Inherit Metab Dis. 2017 Jan;40(1):21-48. (PMID: 27905001) J Clin Neurosci. 2014 Oct;21(10):1815-7. (PMID: 24844621) J Inherit Metab Dis. 2009 Dec;32(6):728-731. (PMID: 19821145) J Inherit Metab Dis. 1999 Jun;22(5):599-607. (PMID: 10399092) JAMA Neurol. 2014 Feb;71(2):188-94. (PMID: 24323041) J Inherit Metab Dis. 2015 Sep;38(5):957-67. (PMID: 25526710) Br J Clin Pharmacol. 2003 Jan;55(1):6-13. (PMID: 12534635) J Pediatr. 1988 Jan;112(1):32-9. (PMID: 3257264) J Coll Physicians Surg Pak. 2017 Sep;27(9):S101-S103. (PMID: 28969739) |
فهرسة مساهمة: | Keywords: Cobalamin E defect; errors of vitamin B12 metabolism; hyperhomocysteinemia; remethylation defects |
تواريخ الأحداث: | Date Created: 20201012 Latest Revision: 20201013 |
رمز التحديث: | 20221213 |
مُعرف محوري في PubMed: | PMC7519755 |
DOI: | 10.4103/jpn.JPN_132_19 |
PMID: | 33042249 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1817-1745 |
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DOI: | 10.4103/jpn.JPN_132_19 |