Severe metabolic acidosis in succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: case report of a novel pathogenic <i>OXCT1</i> variant (L131_E132dup) and its pathophysiological basis

We compared data from patients with IKH requiring hospitalization and those with SCOT deficiency. Although 3HB levels did not differ significantly, patients with SCOT deficiency had significantly lower pH and HCO₃ ^- levels. In ketone body utilization disorders, once ketogenesis is upregulated, ketone bodies rapidly accumulate before renal compensation, leading to severe acidemia. In cases of disproportionate acidemia during ketoacidosis, ketone body utilization disorders should be considered.