title: 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.affiliation: Department of Chemical Pathology, University of Cape Town, Groote Schuur Hospital, South Africa.
authors.forename: C J
authors.initials: CJ
authors.lastname: Pretorius
authors.forename: G G
authors.initials: GG
authors.lastname: Loy Son
authors.forename: F
authors.initials: F
authors.lastname: Bonnici
authors.forename: E H
authors.initials: EH
authors.lastname: Harley
mesh_terms: D000138:Acidosis / Q000235:genetics*; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D015256:Coenzyme A-Transferases / Q000172:deficiency*; D005260:Female; D006801:Humans; D007657:Ketone Bodies / Q000378:metabolism*; D008297:Male
chemical_list: D007657:Ketone Bodies; D015256:Coenzyme A-Transferases; C021460:3-ketoacid CoA-transferase