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

Abstract excerpt

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...

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