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.) |
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| 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 |
Full Text Finder | تدمد: | 1817-1745 |
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| DOI: | 10.4103/jpn.JPN_132_19 |