Ontology highlight
ABSTRACT:
SUBMITTER: Wongkittichote P
PROVIDER: S-EPMC5725275 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
Wongkittichote Parith P Ah Mew Nicholas N Chapman Kimberly A KA
Molecular genetics and metabolism 20171007 4
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 comp ...[more]