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

Hereditary diseases of coenzyme A thioester metabolism.

Author information

1
Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montréal, QC, Canada.
2
College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China.
3
Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montréal, QC, Canada grant.mitchell@recherche-ste-justine.qc.ca.

Abstract

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

PMID:
30626707
DOI:
10.1042/BST20180423

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