This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
SCOT deficiency is a metabolic disease that is caused by reduced or missing levels of an enzyme called succinyl-CoA:3-ketoacid CoA transferase (SCOT). This enzyme is necessary for the body to use ketones. Ketones are substances produced in the liver when fats are broken down. Ketones are an important source of energy, especially when there is a shortage of carbohydrates (sugar). SCOT deficiency is characterized by episodes of ketoacidosis (build-up of ketones in the body). Symptoms of ketoacidosis may vary but can include trouble breathing, poor feeding, vomiting, and lethargy. In some cases, the symptoms can progress to include loss of consciousness and a coma. In between these episodes, individuals with SCOT deficiency do not have any symptoms.
SCOT deficiency is caused by mutations (changes) in the OXCT1 gene. The disease is inherited in an autosomal recessive manner. SCOT deficiency can be diagnosed by ruling out other causes of ketoacidosis and measuring the level of SCOT enzyme. Genetic testing of the OXCT1 gene can be used to confirm the diagnosis. Immediate treatment of ketoacidotic crises is critical. Treatment options include IV fluids such as glucose and sodium bicarbonate. Frequent meals and eating a diet low in fats is important to reduce the frequency of ketoacidotic crises.
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