Publication:

Succinyl-CoA:3-ketoacid CoA transferase deficiency presenting as recurrent refractory ketoacidosis in an infant

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare disorder of ketone body utilization caused by impairment of the OXCT1 gene, leading to recurrent life-threatening ketoacidosis despite preserved glycemia. We report an 8-month-old female infant with recurrent episodes of severe high anion gap metabolic acidosis with marked ketosis and preserved blood glucose requiring peritoneal dialysis and mechanical ventilation. Metabolic investigations demonstrated isolated ketone body accumulation and whole exome sequencing identified a homozygous variant of uncertain significance (VUS) in OXCT1, ultimately confirming SCOT deficiency in the appropriate biochemical and clinical context. This case highlights the importance of considering ketolysis defects in infants with recurrent ketoacidosis and preserved glycemia, and demonstrates the utility of extracorporeal therapy in refractory metabolic crises.