Propionyl-CoA carboxylase – A review

Propionyl-CoA carboxylase (PCC) is the enzyme which catalyzes the carboxylation of propionyl-CoA to methylmalonyl-CoA and is encoded by the genes PCCA and PCCB to form a hetero-dodecamer. Dysfunction of PCC leads to the inherited metabolic disorder propionic acidemia, which can result in an affected individual presenting with metabolic acidosis, hyperammonemia, lethargy, vomiting and sometimes coma and death if not treated. Individuals with propionic acidemia also have a number of long term complications resulting from the dysfunction of the PCC enzyme. Here we present an overview of the current knowledge about the structure and function of PCC. We review an updated list of human variants which are published and provide an overview of the disease. •Review of Propionyl-CoA Carboxylase (PCC) structure and how it relates to function.•Review of currently know human variants in PCCA and PCCB.•Review of known toxic intermediates produced by PCC dysfunction and impact on other biochemical pathways.•General review of propionic acidemia.