The Turkish Journal of Pediatrics 2013 , Vol 55 , Num 6
Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation
Division of 1Pediatric Metabolism and Nutrition and 2Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey, and 3University Children’s Hospital, Basel, Switzerland. E-mail: Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is the most frequent inborn error of vitamin B12 metabolism. The clinical phenotype includes systemic symptoms and neurological decompensation. Affected patients can be divided into two broad groups, as early-onset and late-onset. We present a Turkish patient who had neurological impairment at the age of four years as presented with late-onset cblC defect. Homozygous c.394C>T; p.R132* mutation in the MMACHC gene was detected. The patient was treated with hydroxocobalamin, betaine and folic acid combination with good clinical and biochemical response. Keywords : cobalamin C (cblC) type, late-onset form, hyperhomocysteinemia, methylmalonic aciduria and homocystinuria, vitamin B12, MMACHC gene.
Copyright © 2016