Print friendly version
SCOT deficiency
Other Names for this Disease
- 3-oxoacid CoA transferase deficiency
- Ketoacidosis due to SCOT deficiency
- Succinyl-CoA acetoacetate transferase deficiency
- Succinyl-CoA:3-oxoacid CoA transferase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
Overview
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).[1] 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.[1] 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.[2]
References
- Fukao T. Succinyl-CoA transferase (SCOT) deficiency. Orphanet Encyclopedia. 2004. http://www.orpha.net/data/patho/GB/uk-scot.pdf. Accessed September 2, 2010.
- Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency. Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245050. Accessed July 10, 2009.
Your Questions Answered
by the Genetic and Rare Diseases Information Center2 question(s) from the public on SCOT deficiency have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- Genetics Home Reference (GHR) contains information on SCOT deficiency. Click on the link to go to GHR and review the information.
- Genetics Home Reference (GHR) contains a gene summary on OXCT1. Gene mutations in this gene cause SCOT deficiency. Click on the link to go to GHR and review this summary.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss SCOT deficiency. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss SCOT deficiency. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- Fukao T. Succinyl-CoA transferase (SCOT) deficiency. Orphanet Encyclopedia. 2004.