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.
Pretorius
C J
CJ
Department of Chemical Pathology, University of Cape Town, Groote Schuur Hospital, South Africa.
Loy Son
G G
GG
Bonnici
F
F
Harley
E H
EH
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
D007657:Ketone Bodies; D015256:Coenzyme A-Transferases; C021460:3-ketoacid CoA-transferase