The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers.

Abstract

Methylmalonic acidemia (MMA) is a heterogeneous and severe autosomal recessive inborn error of metabolism most commonly caused by the deficient activity of the vitamin B12 dependent enzyme, methylmalonyl-CoA mutase (MUT). The main treatment for MMA patients is the dietary restriction of propiogenic amino acids and carnitine supplementation. Despite… (More)
DOI: 10.1039/c5mb00736d

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