SCOT deficiency

Common Name(s)

SCOT deficiency

SCOT deficiency is a metabolic disease that is caused by reduced or missing levels of 3-ketoacid CoA transferase. This enzyme is necessary for the body to use ketones. Ketones are substances produced when fat cells break down and are an important source of energy, especially when there is a shortage of glucose. SCOT deficiency is characterized by intermittent ketoacidosis, with the first episode often occurring in newborns or infants (6 to 20 months). In ketoacidosis ketones build-up in the body. Symptoms of ketoacidosis may vary but can include trouble breathing, poor feeding, vomiting, lethargy, unconsciousness, and coma. Crises need to be addressed immediately. Fortunately these crises tend to respond well to IV fluids including glucose and sodium bicarbonate. Patients with SCOT defiency are symptom free between episodes. This deficiency can be caused by mutations in the OXCT1 gene.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "SCOT deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "SCOT deficiency" returned 4 free, full-text research articles on human participants. First 3 results:

A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
 

Author(s): Naeem Shafqat, Kate L Kavanagh, Jörn Oliver Sass, Ernst Christensen, Toshiyuki Fukao, Wen Hwa Lee, Udo Oppermann, Wyatt W Yue

Journal: J. Inherit. Metab. Dis.. 2013 Nov;36(6):983-7.

 

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inherited metabolic disorder of ketone metabolism, characterized by ketoacidotic episodes and often permanent ketosis. To date there are ~20 disease-associated alleles on the OXCT1 gene that encodes the mitochondrial ...

Last Updated: 31 Oct 2013

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Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
 

Author(s): Toshiyuki Fukao, Jörn Oliver Sass, Petri Kursula, Eva Thimm, Udo Wendel, Can Ficicioglu, Kamel Monastiri, Nathalie Guffon, Ivo Barić, Marie-Therese Zabot, Naomi Kondo

Journal: Biochim. Biophys. Acta. 2011 May;1812(5):619-24.

 

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inborn error of ketone body metabolism and causes episodic ketoacidosis. We report clinical and molecular analyses of 5 patients with SCOT deficiency. Patients GS07, GS13, and GS14 are homozygotes of S405P, L327P, and ...

Last Updated: 22 Mar 2011

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Growth-inhibitory effects of the ketone body, monoacetoacetin, on human gastric cancer cells with succinyl-CoA: 3-oxoacid CoA-transferase (SCOT) deficiency.
 

Author(s): Masamitsu Sawai, Masakazu Yashiro, Yukio Nishiguchi, Masaichi Ohira, Kosei Hirakawa

Journal: Anticancer Res.. ;24(4):2213-7.

 

Monoacetoacetin (MAA) has been used experimentally as a physiological energy source in parenteral nutrition. Succinyl-CoA: 3-oxoacid CoA transferase (SCOT) is a key enzyme in the metabolism of MAA. In this study, the effect of MAA on the growth of human gastric cancer cells was examined ...

Last Updated: 27 Aug 2004

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Reviews from the PubMed Database

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The terms "SCOT deficiency" returned 0 free, full-text review articles on human participants.

 
 
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