A new case of succinyl-CoA: Acetoacetate transferase deficiency

Succinyl-CoA transferase deficiency (McKusick 245050) is a rare inherited metabolic disease affecting ketone body utilization in peripheral tissues. Succinyl-CoA: 3-ketoacid CoA transferase (3-OAT; EC 2.8.3.5) is the first enzyme involved in acetoacetate utilization, and it acts by transferring a CoA molecule from succinyl-CoA to acetoacetate. Acetoacetyl-CoA is further converted to acetyl-CoA by mitochondrial acetoacetyl-CoA thiolase (AAT; EC 2.3.1.9), an enzyme also involved in the isoleucine degradation pathway