Two siblings with episodic ketoacidosis and decreased activity of succinyl-CoA:3-ketoacid CoA-transferase in cultured fibroblasts.

Succinyl-CoA:3-ketoacid CoA-transferase deficiency leads to a severe ketoacidosis presenting in infancy. We describe two siblings of African ancestry who presented with repeated episodes of ketoacidosis. Both had a positive test for salicylate in the absence of salicylate ingestion. Analysis of urine for organic acids revealed the presence of acetoacetate and 3-hydroxybutyrate. Succinyl-CoA:3-ketoacid CoA-transferase activities in cultured fibroblasts were 11% and 18% of control values.