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A Novel Mutation in the MUT Gene in an Asymptomatic Newborn with Isolated Methylmalonic Acidemia  

Kwak, Min Jung (Department of Pediatrics, Pusan National University Hospital, Pusan National University School of Medicine)
Kim, Yoo-Mi (Department of Pediatrics, Pusan National University Children's Hospital, Pusan National University School of Medicine)
Publication Information
Journal of The Korean Society of Inherited Metabolic disease / v.14, no.2, 2014 , pp. 174-177 More about this Journal
Abstract
Isolated methylmalonic acidemia (MMA) is a group of autosomal recessive inborn errors of metabolism caused by impaired activity of methylmalonyl-coenzyme A mutase (MCM). Mutations in the gene encoding MCM (MUT ) is the most common cause of isolated MMA. In this report, we identify an asymptomatic 15 days old female who had elevated C3-acylcarnitine (C3) in the newborn screening. Her serum homocysteine was normal and urine methylmalonic acid was increased that suggested isolated MMA. She was maintained on a low-protein diet and carnitine supplementation. At 3 months of age, she was still asymptomatic and had normal growth. We analyzed MUT gene mutations. Two heterozygote mutations in the MUT gene were identified including c.323G>A and c.1672+2T>C (IVS8(+2)T>C. Among these, c.1672+2T>C (IVS8(+2)T>C) have not been described previously.
Keywords
isolated methylmalonic acidemia; newborn screening; MUT gene;
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