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KMID : 0918520140140020174
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Journal of the Korean Society of Inherited Metabolic Disease
2014 Volume.14 No. 2 p.174 ~ p.177
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A Novel Mutation in the MUT Gene in an Asymptomatic Newborn with Isolated Methylmalonic Acidemia
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Kwak Min-Jung
Kim Yoo-Mi
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Abstract
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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.
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KEYWORD
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isolated methylmalonic acidemia, newborn screening, MUT gene
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