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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the OXCT1 gene cause SCOT deficiency. The OXCT1 gene provides instructions for making an enzyme called succinyl-CoA:3-ketoacid CoA transferase (SCOT). The SCOT enzyme is made in the energy-producing centers of cells (mitochondria). The enzyme plays a role in the breakdown of ketones, which are an important source of energy during fasting or when energy demands are increased, such as during illness or when exercising.</p><p>OXCT1 gene mutations result in the production of a SCOT enzyme with little or no function. A reduction in the amount of functional enzyme leads to an inability to break down ketones, resulting in decreased energy production and an elevated level of ketones in the blood. If these signs become severe, a ketoacidotic attack can occur. Individuals with mutations that create an enzyme with partial function are still prone to ketoacidotic attacks, but are less likely to have persistent ketosis.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/succinyl-coa3-ketoacid-coa-transferase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Succinyl-CoA:3-ketoacid CoA transferase deficiency?"},{"bodyHtml":"<p>The signs and symptoms of SCOT deficiency typically appear within the first few years of life. Affected individuals experience episodes of extreme tiredness (lethargy), appetite loss, vomiting, rapid breathing, and, occasionally, seizures. These episodes, which are called ketoacidotic attacks, sometimes lead to coma. About half of affected individuals have a ketoacidotic attack within the first 4 days of life. Affected individuals have no symptoms of the disorder between ketoacidotic attacks.</p><p>People with SCOT deficiency usually have a permanently elevated level of ketones in their blood (persistent ketosis). If the level of ketones gets too high, which can be brought on by infections, fevers, or periods without food (fasting), a ketoacidotic attack can occur. The frequency of ketoacidotic attacks varies among affected individuals.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/succinyl-coa3-ketoacid-coa-transferase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"succinyl-coa3-ketoacid-coa-transferase-deficiency","sourceDocuments":[{"name":"Succinyl-CoA:3-ketoacid CoA transferase deficiency","reviewed":"2011-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:20.370724+00:00","label":"Causes","pageSha256":"8afce61e315dcaa9ba30dcf3c11ec286884573cd6e9a92076d9e3500dfd250d3","sourceUrl":"https://medlineplus.gov/genetics/condition/succinyl-coa3-ketoacid-coa-transferase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/succinyl-coa3-ketoacid-coa-transferase-deficiency"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. 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