Souls by using propionic acidemia come unable to run certain proteins and lipids properly. A problem, which ordinarily appears around early infancy, is characterized by unfortunate feeding, vomiting, weak muscle tone (hypotonia), and lethargy. A results of propionic acidemia may be life-threatening.

Mutations in the PCCA and PCCB genes cause propionic acidemia. A PCCA & PCCB factor produce protein subunits that close to form an enzyme called propionyl-CoA carboxylase. This enzyme is responsible a single step in the breakdown of many amino acids, certain lipids, & cholesterol. Mutations in a PCCA or even PCCB factor disrupt the work of the enzyme, preventing these molecules from either existence broken down. Following, the substance known as propionyl-CoA, proponic acid and other possibly toxic compounds can accumulate, stimulating a signs & consequences of propionic acidemia.