Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle.

ABSTRACT:

Background

Mutations in methylmalonyl-CoA mutase cause methylmalonic acidemia, a common organic aciduria. Current treatment regimens rely on dietary management and, in severely affected patients, liver or combined liver-kidney transplantation. For undetermined reasons, transplantation does not correct the biochemical phenotype.

Methods

To study the metabolic disturbances seen in this disorder, we have created a murine model with a null allele at the methylmalonyl-CoA mutase locus and correlated the results observed in the knock-out mice to patient data. To gain insight into the origin and magnitude of methylmalonic acid (MMA) production in humans with methylmalonyl-CoA mutase deficiency, we evaluated two methylmalonic acidemia patients who had received different variants of

SUBMITTER: Chandler RJ 

PROVIDER: S-EPMC2140053 | biostudies-literature | 2007 Oct

REPOSITORIES: biostudies-literature