Hereditary and acquired diseases of acyl-coenzyme A metabolism
GA Mitchell, N Gauthier, A Lesimple, SP Wang… - Molecular genetics and …, 2008 - Elsevier
Coenzyme A (CoA) sequestration, toxicity or redistribution (CASTOR) is predicted to occur in
many hereditary and acquired conditions in which the degradation of organic acyl esters of
CoA is impaired. The resulting accumulation of CoA esters and reduction of acetyl-CoA and
free CoA (CoASH) will then trigger a cascade of reactions leading to clinical disease. Most
conditions detected by expanded neonatal screening are CASTOR diseases. We review
acyl-CoA metabolism, including CoASH synthesis, transesterification of acyl-CoAs to …
many hereditary and acquired conditions in which the degradation of organic acyl esters of
CoA is impaired. The resulting accumulation of CoA esters and reduction of acetyl-CoA and
free CoA (CoASH) will then trigger a cascade of reactions leading to clinical disease. Most
conditions detected by expanded neonatal screening are CASTOR diseases. We review
acyl-CoA metabolism, including CoASH synthesis, transesterification of acyl-CoAs to …