Infantile ketoacidosis associated with decreased activity of succinyl-CoA: 3-ketoacid CoA-transferase
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01811424
Reference7 articles.
1. Bennett, M. J., Curnock, D. A., Engel, P. C., Shaw, L., Gray, R. G. F., Hull, D., Patrick, A. D. and Pollitt, R. J. Glutaric aciduria type II: biochemical investigation and treatment of a child diagnosed prenatally.J. Inher. Metab. Dis. 7 (1984) 57–61
2. Edwards, M. A., Singh, M. and Tubbs, P. K. A simple purification of acetoacetate-succinate CoA-transferase using substrate elution chromatography.FEBS Lett. 37 (1973) 155–158
3. Middleton, B. The oxoacyl-CoA thiolases of animal tissues.Biochem. J. 132 (1973) 717–780
4. Middleton, B. and Bartlett, K. The synthesis and characterization of 2-methylacetoacetyl-CoA and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria.Clin. Chim. Acta 128 (1983) 291–305
5. Robinson, A. M. and Williamson, D. H. Physiological roles of ketone bodies as substrates and signals in mammalian tissues.Physiol. Rev. 60 (1980) 143–187
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1. Clinical variability and outcome of succinyl‐CoA:3‐ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases;JIMD Reports;2021-09-14
2. Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease;Biochimie;2021-04
3. A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene;Journal of Pediatric Intensive Care;2017-07-19
4. A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic Ketoacidosis;Journal of Inborn Errors of Metabolism and Screening;2016-06-03
5. Toxigenic and Metabolic Causes of Ketosis and Ketoacidotic Syndromes;Critical Care Clinics;2012-10
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