A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene

Abstract

We describe a case of succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency in an otherwise healthy 14 month-old female. She presented with lethargy, tachypnea, and hyperpnea with hypoglycemia and a severe anion gap metabolic acidosis. Early management included correction of the acidosis and metabolic support with dextrose and insulin. Inborn errors of metabolism are rare outside the neonatal period. However, SCOT deficiency may present at older ages. Maintaining a high index of suspicion, immediate transfer to a pediatric intensive care unit, and prompt metabolic support are key to achieving a favorable outcome.

SCOT Deficiency Mimicking Sepsis: An Unusual Cause of Increased Anion Gap Metabolic Acidosis

“…Another clue in the present patient was that a mild symptom such as loss of appetite could turn into a severe clinical picture such as coma during day, which could improve within hours with only hydration therapy. SCOT-deficient patients usually respond to hydration therapy (9) and rarely need dialysis (10). When metabolic screening is examined, low carnitine may cause false negative results in acylcarnitine analysis due to insufficient saturation of acylcarnitine.…”

A case of severe acidosis in a 12-month-old: Succinyl-CoA:3-ketoacid-CoA transferase deficiency with OXCT1 gene mutations

“…The first case of SCOT deficiency was reported in the literature in 1972 after post-mortem tissue of a 6-month-old infant was examined for enzymatic activity and found to have no measurable SCOT activity. 3 SCOT catalyzes the first rate-limiting step of ketone body utilization by mitochondria. It transfers the CoA from succinyl-CoA to acetoacetate to form acetoacetyl-CoA which can be used for the tricarboxylic acid cycle.…”