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

Abstract

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.

• Authors: C J Pretorius, G G Loy Son, F Bonnici, E H Harley
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 19 Issue 3 Pg. 296-300 ( 1996) ISSN: 0141-8955 [Print] United States
• PMID: 8803771 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Ketone Bodies
• Coenzyme A-Transferases
• 3-ketoacid CoA-transferase

Topics

• Acidosis (genetics)
• Cells, Cultured
• Child
• Child, Preschool
• Coenzyme A-Transferases (deficiency)
• Female
• Humans
• Ketone Bodies (metabolism)
• Male