Methylmalonic Acidemia News and Information
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Methylmalonic acidemia is a disorder which is passed down through families where the body cannot break down certain proteins and fats. The result is a build up of a substance called methylmalonic acid in the blood. The disorder is caused by an enzymatic defect in the metabolism of four amino acids (methionine, threonine, isoleucine and valine). In the acute form, drowsiness, coma, and seizures may occur. Mental retardation is also a long-term consequence. All known organic acidemias are inherited as autosomal recessive traits.
Methylmalonic acidemia stems from several genotypes. All forms of the disorder usually diagnosed in the early neonatal period, presenting progressive encephalopathy, and secondary hyperammonemia. The disorder can result in death if undiagnosed or left untreated.