Propionic acidemia, PCCB-related

Propionic acidemia (PA) is an inherited disease characterized by vomiting, lethargy, developmental delays, and hypotonia. It involves abnormalities in an enzyme, propionyl-CoA carboxylase, which breaks down proteins and certain types of fats and cholesterol. Symptoms associated with PA are due to a toxic build-up of these substances and their metabolites in the body, primarily affecting the brain and nervous system. View testing options