DIAGNóSTICO "IN VITRO" DE LA DEFICIENCIA DE ACIL-CoA DESHIDROGENASA DE CADENA CORTA

short-chain acyl-coa dehydrogenase (scad) is the key enzyme for degrading fatty acids with a 4-6 atoms carbon chain. it is necessary to always confirm this deficiency using laboratory methods. fibroblasts of patients suffering scad deficiency were incubated with tritiated palmitate and miristatesubstrates. a significant difference (p<0.05) was found when comparing tritiated palmitate and miristate degradation between controls and patients suffering scad deficiency.