메틸말론산혈증 신생아의 MUT 유전자에서 발견된 새로운 돌연변이 = A Novel Mutation in the MUT Gene in an Asymptomatic Newborn with Isolated Methylmalonic Acidemia

다국어 초록 (Multilingual 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.