Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency (ECHS1D)

Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency, also known as echs1d, is related to leigh syndrome and lactic acidosis. An important gene associated with Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency is ECHS1 (Enoyl-CoA Hydratase, Short Chain 1). Affiliated tissues include brain and eye, and related phenotypes are hearing impairment and increased serum lactate