Methylmalonic acidemia

Methylmalonic acidemias are a group of inherited diseases characterized by lethargy, vomiting, developmental delays, hypotonia, and enlargement of the liver. They involve defects in one of several proteins and enzymes that break down certain amino acids, fatty acids, and cholesterol in the body. Symptoms are due to the toxic build-up of these substances and their metabolites in organs and tissues. Subtypes include cobalamin A type, cobalamin B type, and methylmalonyl CoA mutase deficiency. View testing options