Succinyl-CoA: 3-Ketoacid CoA-Transferase Deficiency in a Saudi Girl

Objective: Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare genetic disorder of ketone utilization and isoleucine catabolism caused by mutations in the OXCT1 gene,
 Case: A Saudi girl case SCOT confirmed analysis has been reported this study. 5-year-old presented to emergency with first episode severe metabolic ketoacidosis after febrile illness. On admission, she was drowsy lethargic, severely dehydrated needs admit highly dependent area. Initial investigations were done during crisis showed refractory acidosis (pH 7.18, HCO3- 7.4 mmol/L), normal ammonia, lactic acidosis, urine organic acid profile revealed elevations 3-hydroxybutyrate acetoacetate. Genetic CentoMito Comprehensive (Large extended screening panel), sequencing gene that proband homozygous for missense likely pathogenic variant c.1402C>T p.(Arg468Cys) confirming diagnosis deficiency.
 Conclusion: This child succinyl-CoA:3-ketoacid report as searched literature. highlights importance suspecting differential pediatric preventing life-threatening Metabolic