Two siblings with episodic ketoacidosis and decreased activity of succinyl‐CoA:3‐ketoacid CoA‐transferase in cultured fibroblasts
- 7 November 1995
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 19 (3) , 296-300
- https://doi.org/10.1007/bf01799257
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.Keywords
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