Biotin in metabolism, gene expression, and human disease

J Inherit Metab Dis. 2019 Jul;42(4):647-654. doi: 10.1002/jimd.12073. Epub 2019 Mar 19.


Biotin is a water-soluble vitamin that belongs to the vitamin B complex and which is an essential nutrient of all living organisms from bacteria to man. In eukaryotic cells biotin functions as a prosthetic group of enzymes, collectively known as biotin-dependent carboxylases that catalyze key reactions in gluconeogenesis, fatty acid synthesis, and amino acid catabolism. Enzyme-bound biotin acts as a vector to transfer a carboxyl group between donor and acceptor molecules during carboxylation reactions. In recent years, evidence has mounted that biotin also regulates gene expression through a mechanism beyond its role as a prosthetic group of carboxylases. These activities may offer a mechanistic background to a developing literature on the action of biotin in neurological disorders. This review summarizes the role of biotin in activating carboxylases and proposed mechanisms associated with a role in gene expression and in ameliorating neurological disease.

Keywords: biotin metabolism; biotin-dependent transcription; biotin-responsive disease; biotinidase deficiency; holocarboxylase synthetase; vitamin disorders.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Amino Acids / metabolism
  • Biotin / deficiency
  • Biotin / metabolism*
  • Biotinidase / metabolism*
  • Biotinidase Deficiency / enzymology*
  • Biotinidase Deficiency / genetics
  • Carbon-Carbon Ligases / metabolism*
  • Gene Expression Regulation
  • Humans
  • Infant, Newborn
  • Metabolism, Inborn Errors / genetics
  • Metabolism, Inborn Errors / metabolism
  • Multiple Carboxylase Deficiency / genetics
  • Multiple Carboxylase Deficiency / metabolism


  • Amino Acids
  • Biotin
  • Biotinidase
  • Carbon-Carbon Ligases