Cobalamin C disease

Cobalamin C disease (cblC), also known as methylmalonic aciduria with homocystinuria, is an inherited disease characterized by hypotonia, lethargy, intellectual and developmental disabilities, seizures, vision problems, and blood-related problems. It involves defects in a protein used to change vitamin B12 into a form that the body uses to break down certain amino acids and fats. Symptoms are due to the build-up of these substances and their metabolites in the body’s organs and tissues. View testing options