Propionyl-CoA carboxylase - A review

Mol Genet Metab. 2017 Dec;122(4):145-152. doi: 10.1016/j.ymgme.2017.10.002. Epub 2017 Oct 7.

Abstract

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.

Keywords: 3-hydroxypropionate; Methylcitrate; Propionic acidemia; Propionyl-CoA carboxylase.

Publication types

  • Review

MeSH terms

  • Carbon-Carbon Ligases / chemistry*
  • Carbon-Carbon Ligases / genetics
  • Carbon-Carbon Ligases / metabolism*
  • Humans
  • Hyperammonemia / complications
  • Lactic Acid / analogs & derivatives
  • Lactic Acid / metabolism
  • Methylmalonyl-CoA Decarboxylase / genetics
  • Mutation
  • Propionic Acidemia / complications
  • Propionic Acidemia / enzymology*
  • Propionic Acidemia / genetics
  • Propionic Acidemia / physiopathology
  • Structure-Activity Relationship

Substances

  • Lactic Acid
  • hydracrylic acid
  • Carbon-Carbon Ligases
  • propionyl CoA carboxylase (ATP-hydrolyzing)
  • Methylmalonyl-CoA Decarboxylase