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Year : 2020  |  Volume : 15  |  Issue : 2  |  Page : 140-144

Delayed diagnosis of cobalamin E defect in an adolescent patient

1 Department of Pediatric Metabolism, Faculty of Medicine, Ankara University, Ankara, Turkey
2 Department of Pediatric Hematology, Faculty of Medicine, Ankara University, Ankara, Turkey

Correspondence Address:
Dr. Merve Koc Yekeduz
Department of Pediatrics, Division of Pediatric Metabolism, Faculty of Medicine, Ankara University, Sihhiye, Ankara.
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jpn.JPN_132_19

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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-B12), and carnitine. During treatment, homocysteine levels decreased over time.


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