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- Title
Delayed diagnosis of cobalamin E defect in an adolescent patient.
- Authors
Yekeduz, Merve; Unal Ince, Elif; Ileri, Talia; Ertem, Mehmet; Eminoglu, Fatma
- Abstract
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.
- Subjects
THERAPEUTIC use of folic acid; THERAPEUTIC use of vitamin B12; VITAMIN B12 metabolism; BRAIN; CARNITINE; DIAGNOSIS; MAGNETIC resonance imaging; MEDICAL errors; PEOPLE with intellectual disabilities; GENETIC mutation; VITAMIN B2; VITAMIN B6; ATROPHY; MACROCYTIC anemia; BETAINE; HOMOCYSTINURIA; HYPERHOMOCYSTEINEMIA; WHITE matter (Nerve tissue)
- Publication
Journal of Pediatric Neurosciences, 2020, Vol 15, Issue 2, p140
- ISSN
1817-1745
- Publication type
Article
- DOI
10.4103/jpn.JPN_132_19