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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 51 - 54 (4page)
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초록· 키워드
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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 deficiencyof 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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등록된 정보가 없습니다.
참고문헌 (19)
참고문헌 신청
Acquaviva C / 2005 / Molecular basis of methylmalonyl CoA mutase apoenzyme defect in 40 European patients affected by mut0and mut- forms of methylmalonic academia: identific
Deodato F / 2006 / Methylmalonic and propionic aciduria / Am J Med Genet C Semin Med Genet 142 : 104 ~ 112
Fenton WA / 1995 / The metabolic and molecular bases of inherited disease / McGraw-Hill Inc : 1423 ~ 1449
Fenton WA / 2001 / Disorders of propionate and methylmalonage metabolism: the metabolic and molecular bases of inherited disease / McGraw-Hill : 2165 ~ 2193
Horster F / 2004 / Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges / Pediatr Nephrol 19 : 1071 ~ 1074
Deodato F / 2006 / Methylmalonic and propionic aciduria / Am J Med Genet C Semin Med Genet 142 : 104 ~ 112
Fenton WA / 1995 / The metabolic and molecular bases of inherited disease / McGraw-Hill Inc : 1423 ~ 1449
Fenton WA / 2001 / Disorders of propionate and methylmalonage metabolism: the metabolic and molecular bases of inherited disease / McGraw-Hill : 2165 ~ 2193
Horster F / 2004 / Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges / Pediatr Nephrol 19 : 1071 ~ 1074
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