Fig. 1
From: Clinical and biochemical characterization of four patients with mutations in ECHS1
Biochemical pathways. The SCEH enzyme encoded by the ECHS1 gene is involved in different metabolic pathways. On the left side the pathways of valine, isoleucine and leucine are depicted. On the right side the pathway of medium/short-chain fatty acid oxidation is depicted. BCAT, branched-chain aminotransferase; BCKD complex, branched-chain alpha-keto acid dehydrogenase complex; HIBCH, 3-hydroxyisobutyryl-CoA hydrolase; HIBADH, 3-hydroxyisobutyrate dehydrogenase; HMG-CoA lyase, 3-hydroxy-3-methylglutaryl-CoA lyase; MHBD, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase; MGH, 3-methylglutaconyl-CoA hydratase; IBD, isobutyryl-CoA dehydrogenase; IVD, isovaleryl-CoA dehydrogenase; MCAD, medium-chain acyl-CoA dehydrogenase; MCC, 3-methylcrotonyl-CoA carboxylase; MMSDH, methylmalonate semialdehyde dehydrogenase; SBCAD, short branched-chain acyl-CoA dehydrogenase; SCAD, short-chain acyl-CoA dehydrogenase; SCEH, short-chain enoyl-CoA hydratase; SCHAD, short-chain 3-hydroxyacyl-CoA dehydrogenase