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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the ACAT1 gene cause beta-ketothiolase deficiency. This gene provides instructions for making an enzyme that is found in the energy-producing centers within cells (mitochondria). This enzyme plays an essential role in breaking down proteins and fats from the diet. Specifically, the ACAT1 enzyme helps process isoleucine, which is a building block of many proteins, and ketones, which are produced during the breakdown of fats.</p><p>Mutations in the ACAT1 gene reduce or eliminate the activity of the ACAT1 enzyme. A shortage of this enzyme prevents the body from processing proteins and fats properly. As a result, related compounds can build up to toxic levels in the blood. These substances may cause the blood to become too acidic (ketoacidosis) and can damage the body&#x27;s tissues and organs, particularly in the nervous system.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/beta-ketothiolase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Beta-ketothiolase deficiency?"},{"bodyHtml":"<p>The signs and symptoms of beta-ketothiolase deficiency typically appear between the ages of 6 months and 24 months. Affected children experience episodes of vomiting, dehydration, difficulty breathing, extreme tiredness (lethargy), and, occasionally, seizures. These episodes, which are called ketoacidotic attacks, sometimes lead to coma. Ketoacidotic attacks are frequently triggered by infections or periods without food (fasting), and increased intake of protein-rich foods can also play a role.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/beta-ketothiolase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"beta-ketothiolase-deficiency","sourceDocuments":[{"name":"Beta-ketothiolase deficiency","reviewed":"2020-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:49.546253+00:00","label":"Causes","pageSha256":"3e50161b1522d232687e3ac7fbc24b4898b6263fbfbfdbe0f4978129ce413f47","sourceUrl":"https://medlineplus.gov/genetics/condition/beta-ketothiolase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/beta-ketothiolase-deficiency"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Beta-ketothiolase deficiency"},"schemaVersion":1}