Delayed diagnosis of cobalamin E defect in an adolescent patient

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.
Source: Journal of Pediatric Neurosciences - Category: Neuroscience Authors: Source Type: research