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KMID : 1039920150220010051
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Neonatal Medicine
2015 Volume.22 No. 1 p.51 ~ p.54
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A Novel MUT Gene Mutation Detected in a Female Infant with Methylmalonic Acidemia
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Song Woo-Sun
Song Byung-Jin
Park Hyung-Doo
Kim Won-Duck
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Abstract
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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.
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KEYWORD
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Methylmalonic acidemia, L-methylmalonyl-CoA mutase, Nonsense mutation
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