ECHS1 and mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency: A 50% reduction in Echs1 causes cardiomyopathy phenotypes and lipid accumulation within liver and kidney.29,30 Cardiac impairments are not observed in all patient reports and are mostly limited to severe neonatal cases.3,6,10,36 Herein, we focused on assessing neurological phenotypes as ECHS1D patients present with Leigh-like symptoms; however, future studies warrant investigation of the cardiac and lipid accumulation phenotypes that have been reported in other ECHS1D models.29,30