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7715670 
Journal Article 
Review 
Propionyl-CoA carboxylase - A review 
Wongkittichote, P; Ah Mew, N; Chapman, KA 
2017 
1 
Molecular Genetics and Metabolism
ISSN: 1096-7192
EISSN: 1096-7206 
122 
4 
145-152 
English 
29033250 
WOS:000418879000001 
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.