A Novel MUT Gene Mutation Detected in a Female Infant with Methylmalonic Acidemia.
- Author:
Woo Sun SONG
1
;
Byung Jin SONG
;
Hyung Doo PARK
;
Won Duck KIM
Author Information
- Publication Type:Original Article
- Keywords: Methylmalonic acidemia; L-methylmalonyl-CoA mutase; Nonsense mutation
- MeSH: Codon, Nonsense; Exons; Female; Humans; Infant*; Metabolic Diseases
- From:Neonatal Medicine 2015;22(1):51-54
- CountryRepublic of Korea
- Language:Korean
- Abstract: 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.
