Delayed diagnosis of cobalamin e defect in an adolescent patient

Yekeduz M. K., Ince E. U., Ileri T., ERTEM M., EMİNOĞLU F. T.

Journal of Pediatric Neurosciences, cilt.15, sa.2, ss.140-144, 2020 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 15 Sayı: 2
  • Basım Tarihi: 2020
  • Doi Numarası: 10.4103/jpn.jpn_132_19
  • Dergi Adı: Journal of Pediatric Neurosciences
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, CINAHL, EMBASE
  • Sayfa Sayıları: ss.140-144
  • Anahtar Kelimeler: Cobalamin E defect, errors of vitamin B12 metabolism, hyperhomocysteinemia, remethylation defects, METHYLMALONIC ACIDEMIA, BETAINE, CBLC
  • Ankara Üniversitesi Adresli: Evet

Özet

© 2020 Journal of Pediatric Neurosciences | Published by Wolters Kluwer-Medknow.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.