Article
Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.
Molecular genetics and metabolism - 1 Apr 2005
Martínez Maria Angeles, Rincón Ana, Desviat Lourdes R, Merinero Begoña, Ugarte Magdalena, Pérez Belén
Abstract excerpt
Isolated methylmalonic aciduria (MMA) is an inborn error of metabolism due to the impaired isomerization of l-methylmalonyl-CoA to succinyl-CoA. This reaction is catalyzed by the mitochondrial protein methylmalonyl-CoA mutase (MCM, EC 5.4.99.2), an adenosylcobalamin-dependent enzyme. Four different forms of isolated MMA have been described: mut MMA associated with defects in the MCM apoenzyme, and phenotypically...
Topics
- Acidosis
- Alkyl and Aryl Transferases
- Alleles
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Sequence
- Genetic Variation
- Humans
- Membrane Transport Proteins
- Methylmalonyl-CoA Mutase
- Mitochondrial Membrane Transport Proteins
- Mitochondrial Proteins
- Molecular Sequence Data
- Mutation