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Neonatal Med > Volume 22(1); 2015 > Article
Neonatal Medicine 2015;22(1):51-54.
DOI:    Published online February 28, 2015.
A Novel MUT Gene Mutation Detected in a Female Infant with Methylmalonic Acidemia.
Woo Sun Song, Byung Jin Song, Hyung Doo Park, Won Duck Kim
1Department of Pediatrics, Daegu Fatima hospital, Daegu, Korea.
2Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Methylmalonic acidemia (MMA) is an autosomal recessive metabolic disease. MMA results from a deficiency of L-methylmalonyl-CoA mutase (encoded by MUT), its cofactor 5-deoxyadenosylcobalamin (MMAA, MMAB, and MMADHC), or a deficiency of methylmalonyl CoA-epimerase (MCEE). We report the case of a 5-day-old infant with MMA in which a missense and a novel nonsense mutation in MUT were present. Direct sequencing analysis of MUT revealed a heterozygous c.1106G>A (p.Arg369His) mutation in exon 6 and a heterozygous c.362_368dupAGTTCTA (p.Tyr123*) mutation in exon 2; the latter results in a premature stop codon.
Key Words: Methylmalonic acidemia; L-methylmalonyl-CoA mutase; Nonsense mutation


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