Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway

J Inherit Metab Dis. 2012 Jan;35(1):5-12. doi: 10.1007/s10545-010-9236-x. Epub 2010 Nov 23.

Abstract

Valine is one of the three branched-chain amino acids which undergoes oxidation within mitochondria. In this paper, we describe the current state of knowledge with respect to the enzymology of the valine oxidation pathway and the different disorders affecting oxidation.

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Amino Acids, Branched-Chain / metabolism*
  • Animals
  • Enoyl-CoA Hydratase / metabolism
  • Humans
  • Hydroxybutyrate Dehydrogenase / metabolism
  • Methylmalonate-Semialdehyde Dehydrogenase (Acylating) / metabolism
  • Mitochondria / metabolism
  • Models, Chemical
  • Oxidoreductases Acting on CH-CH Group Donors / metabolism
  • Oxygen / chemistry*
  • Thiolester Hydrolases / metabolism
  • Valine / chemistry
  • Valine / genetics*

Substances

  • Amino Acids, Branched-Chain
  • Hydroxybutyrate Dehydrogenase
  • Methylmalonate-Semialdehyde Dehydrogenase (Acylating)
  • Oxidoreductases Acting on CH-CH Group Donors
  • 2-methylacyl-CoA dehydrogenase
  • Thiolester Hydrolases
  • 3-hydroxyisobutyryl-CoA hydrolase
  • Enoyl-CoA Hydratase
  • Valine
  • Oxygen