Organic acidemias such as methylmalonic acidemia (MMA) are a group of inborn errors of
metabolism that typically arise from defects in the catabolism of amino and fatty acids …

Methylmalonic aciduria (MMA) is an inborn error of metabolism with multiple monogenic
causes and a poorly understood pathogenesis, leading to the absence of effective causal …

Abstract Background Mutations in methylmalonyl-CoA mutase cause methylmalonic
acidemia, a common organic aciduria. Current treatment regimens rely on dietary …

Methylmalonic aciduria (MMAuria), caused by deficiency of methylmalonyl-CoA mutase
(MUT), usually presents in the newborn period with failure to thrive and metabolic crisis …

Methylmalonic acidemia (MMA), an organic acidemia characterized by metabolic instability
and multiorgan complications, is most frequently caused by mutations in methylmalonyl-CoA …

Isolated methylmalonic acidemia/aciduria (MMA) is a devastating metabolic disorder with
poor outcomes despite current medical treatments. Like other mitochondrial enzymopathies …

Methylmalonic acidemias (MMAs) are inborn errors of metabolism due to the deficient
activity of methylmalonyl-CoA mutase (MUT). MUT catalyzes the formation of succinyl-CoA …

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 …

Methylmalonic acidemia (MMA) is a severe, and sometimes lethal, monogenic metabolic
disorder in need of improved treatments. A number of new genomic therapies, which include …

Methylmalonic acidemia (MMA) is an organic acidemia caused by deficient activity of the
mitochondrial enzyme methylmalonyl-CoA mutase (MUT). This disorder is associated with …