Journal of Pediatric Neurosciences
CASE REPORT
Year
: 2020  |  Volume : 15  |  Issue : 2  |  Page : 140--144

Delayed diagnosis of cobalamin E defect in an adolescent patient


Merve Koc Yekeduz1, Elif Unal Ince2, Talia Ileri2, Mehmet Ertem2, Fatma Tuba Eminoglu1 
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.
Turkey

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.


How to cite this article:
Yekeduz MK, Unal Ince E, Ileri T, Ertem M, Eminoglu FT. Delayed diagnosis of cobalamin E defect in an adolescent patient.J Pediatr Neurosci 2020;15:140-144


How to cite this URL:
Yekeduz MK, Unal Ince E, Ileri T, Ertem M, Eminoglu FT. Delayed diagnosis of cobalamin E defect in an adolescent patient. J Pediatr Neurosci [serial online] 2020 [cited 2020 Oct 22 ];15:140-144
Available from: https://www.pediatricneurosciences.com/article.asp?issn=1817-1745;year=2020;volume=15;issue=2;spage=140;epage=144;aulast=Yekeduz;type=0