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Pathway Description
Succinyl CoA: 3-Ketoacid CoA Transferase Deficiency
Rattus norvegicus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-08-16
Succinyl CoA: 3-Ketoacid CoA Transferase (SCOT) deficiency is a rare inherited metabolic disorder causing reduction of ketone body utilization. In normal functioning patients, ketone bodies such as Acetoacetate (AcAc) and 3‐hydroxybutyrate (3HB) are metabolized inside the liver from free fatty acids. Next, ketone bodies are transported to extrahepatic tissues via the blood stream. Once in extrahepatic tissues, SCOT converts AcAc to acetoacetyl‐CoA and T2 cleaves acetoacetyl‐CoA into acetyl‐CoA. This process is crucial for producing alternative energy sources to glucose in order to maintain blood glucose levels. Patients with SCOT deficiency have this process disturbed and ketoacidosis which is the acidification of the bloodstream due to excess ketone body accumulation, can occur. Current treatments include avoiding actions that could onset ketoacidosis such as fasting and early infusion of glucose.
The severity of SCOT deficiency differs from patient to patient. Some exhibit severe genotypes where ketones are always in abundance in the body, while others could have mild genotypes with no preeminent ketosis however both could exhibit ketoacidotic episodes.
References
Succinyl CoA: 3-Ketoacid CoA Transferase Deficiency References
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Pubmed: 9521962
Ketone Body Metabolism References
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Pubmed: 1971108
Gil-Gomez G, Ayte J, Hegardt FG: The rat mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme-A-synthase gene contains elements that mediate its multihormonal regulation and tissue specificity. Eur J Biochem. 1993 Apr 15;213(2):773-9. doi: 10.1111/j.1432-1033.1993.tb17819.x.
Pubmed: 8097464
Lundby A, Secher A, Lage K, Nordsborg NB, Dmytriyev A, Lundby C, Olsen JV: Quantitative maps of protein phosphorylation sites across 14 different rat organs and tissues. Nat Commun. 2012 Jun 6;3:876. doi: 10.1038/ncomms1871.
Pubmed: 22673903
Cullingford TE, Dolphin CT, Bhakoo KK, Peuchen S, Canevari L, Clark JB: Molecular cloning of rat mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase and detection of the corresponding mRNA and of those encoding the remaining enzymes comprising the ketogenic 3-hydroxy-3-methylglutaryl-CoA cycle in central nervous system of suckling rat. Biochem J. 1998 Jan 15;329 ( Pt 2):373-81. doi: 10.1042/bj3290373.
Pubmed: 9425122
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Churchill P, Hempel J, Romovacek H, Zhang WW, Brennan M, Churchill S: Primary structure of rat liver D-beta-hydroxybutyrate dehydrogenase from cDNA and protein analyses: a short-chain alcohol dehydrogenase. Biochemistry. 1992 Apr 21;31(15):3793-9. doi: 10.1021/bi00130a009.
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Pubmed: 8515054
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from SMP0000569
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