Hereditary diseases of coenzyme A thioester metabolism
| Autor: | Chen Zhao, Shu Pei Wang, Grant A. Mitchell, Hao Yang, Youlin Wang |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
chemistry.chemical_classification
0303 health sciences Newborn screening Coenzyme A Infant Newborn Metabolism Thioester Biochemistry Pathophysiology 03 medical and health sciences chemistry.chemical_compound Neonatal Screening 0302 clinical medicine chemistry Toxicity Hereditary Diseases Animals Humans Redistribution (chemistry) Acyl Coenzyme A 030217 neurology & neurosurgery 030304 developmental biology |
| Zdroj: | Biochemical Society Transactions. 47:149-155 |
| ISSN: | 1470-8752 0300-5127 |
| DOI: | 10.1042/bst20180423 |
| Popis: | 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). |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|