Hereditary diseases of coenzyme A thioester metabolism

Biochem Soc Trans. 2019 Feb 28;47(1):149-155. doi: 10.1042/BST20180423. Epub 2019 Jan 9.


Coenzyme A (CoA) thioesters (acyl-CoAs) are essential intermediates of metabolism. Inborn errors of acyl-CoA metabolism include a large fraction of the classical organic acidemias. These conditions can involve liver, muscle, heart and brain, and can be fatal. These conditions are increasingly detected by newborn screening. There is a renewed interest in CoA metabolism and in developing effective new treatments. Here, we review theories of the pathophysiology in relation to mitochondrial CoA sequestration, toxicity and redistribution (CASTOR).

Keywords: CoA thioester; inborn error; pathophysiology.

Publication types

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

MeSH terms

  • Acyl Coenzyme A / metabolism*
  • Animals
  • Coenzyme A / metabolism*
  • Humans
  • Infant, Newborn
  • Neonatal Screening


  • Acyl Coenzyme A
  • Coenzyme A

Grant support