title: Molecular and structural analysis of two novel mutations in a patient with mut(-) methylmalonyl-CoA deficiency.
abstract: Inherited defects in the gene encoding the methylmalonyl-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 (K621N 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.
authors.affiliation: Service de Biochimie-Hormonologie, Assitanace Publique-Hôpitaux de Paris, Hôpital Robert Debré, 48 Bd Sérurier, 75019 Paris, France. jean-francois.benoist@rdb.ap-hop-paris.fr
authors.forename: J F
authors.initials: JF
authors.lastname: Benoist
authors.forename: C
authors.initials: C
authors.lastname: Acquaviva
authors.forename: I
authors.initials: I
authors.lastname: Callebaut
authors.forename: N
authors.initials: N
authors.lastname: Guffon
authors.forename: H
authors.initials: H
authors.lastname: Ogier de Baulny
authors.forename: J P
authors.initials: JP
authors.lastname: Mornon
authors.forename: D
authors.initials: D
authors.lastname: Porquet
authors.forename: J
authors.initials: J
authors.lastname: Elion
mesh_terms: D000214:Acyl Coenzyme A / Q000737:chemistry* / Q000172:deficiency* / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008958:Models, Molecular; D008969:Molecular Sequence Data; D016296:Mutagenesis; D009154:Mutation; D020125:Mutation, Missense; D010641:Phenotype; D011424:Propionibacterium / Q000201:enzymology; D017434:Protein Structure, Tertiary
chemical_list: D000214:Acyl Coenzyme A; C015357:methylmalonyl-coenzyme A