Molecular and structural analysis of two novel mutations in a patient with Mut- methylmalanyl-CoA deficiency

被引：11

作者：

Benoist, JF

Acquaviva, C

Callebaut, I

Guffon, N

de Baulny, HO

Mornon, JP

Porquet, D

Elion, J

机构：

[1] Hop Robert Debre, Assitance Publ Hop Paris, Serv Biochim Hormonol, F-75019 Paris, France

[2] Hop Robert Debre, Assitance Publ Hop Paris, Serv Biochim Genet, INSERM,U458, F-75019 Paris, France

[3] Hop Robert Debre, Assitance Publ Hop Paris, Serv Neurol & Malad Metab, F-75019 Paris, France

[4] Univ Paris 06, LMCP, CNRS, UMR 7590, F-75252 Paris 05, France

[5] Univ Paris 07, LMCP, CNRS, UMR 7590, F-75252 Paris 05, France

[6] Hop Debrousse, Serv Pediat, F-69005 Lyon, France

来源：

MOLECULAR GENETICS AND METABOLISM | 2001年 / 72卷 / 02期

关键词：

methylmalonyl-CoA mutase; methylmalonic acidemia; vitamin B-12;

D O I：

10.1006/mgme.2000.3122

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Inherited defects in the gene encoding the methylnalonyl-CoA mutase (MCM) result in the mut forms of methylmalonic aciduria (MMA). Twelve mutations have been identified associated with the mut(-) phenotype. We report two novel mutations (R621N and D156N) in a compound heterozygote mut- patient. These two mutations and three previously published ones (H627N, A191E, Y231N) were mapped onto a three dimensional homology model of the human MCM constructed from the crystal structure of the Propionibacterium shermanii enzyme. (C) 2001 Academic Press.

引用

页码：181 / 184

页数：4

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