Ectopic protein lysine methacrylation contributes to defects . . . We propose that ectopic Kmea modification mediates the defects caused by HIBCH- or ECHS1-deficiency Reducing Kmea modification provides a new approach for treating HIBCH- or ECHS1-related Leigh syndrome
ENOYL-CoA HYDRATASE, SHORT-CHAIN, 1, MITOCHONDRIAL; ECHS1 - OMIM In the valine catabolic pathway, ECHS1 acts upstream of HIBCH (610690) and converts methacrylyl-CoA to (S)-3-hydroxyisobutyryl-CoA and acryloyl-CoA to 3-hydroxypropionyl-CoA (summary by Peters et al , 2014)