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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the SLC25A20 gene cause CACT deficiency. This gene provides instructions for making a protein called carnitine-acylcarnitine translocase (CACT). This protein is essential for fatty acid oxidation, a multistep process that breaks down (metabolizes) fats and converts them into energy. Fatty acid oxidation takes place within mitochondria, which are the energy-producing centers in cells. A group of fats called long-chain fatty acids must be attached to a substance known as carnitine to enter mitochondria. Once these fatty acids are joined with carnitine, the CACT protein transports them into mitochondria. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues.</p><p>Although mutations in the SLC25A20 gene change the structure of the CACT protein in different ways, they all lead to a shortage (deficiency) of the transporter. Without enough functional CACT protein, long-chain fatty acids cannot be transported into mitochondria. As a result, these fatty acids are not converted to energy. Reduced energy production can lead to some of the features of CACT deficiency, such as hypoketotic hypoglycemia. Fatty acids and long-chain acylcarnitines (fatty acids still attached to carnitine) may also build up in cells and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of the disorder.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/carnitine-acylcarnitine-translocase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Carnitine-acylcarnitine translocase deficiency?"},{"bodyHtml":"<p>Many infants with CACT deficiency do not survive the newborn period. Some affected individuals have a less severe form of the condition and do not develop signs and symptoms until early childhood. These individuals are at risk for liver failure, nervous system damage, coma, and sudden death.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/carnitine-acylcarnitine-translocase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"carnitine-acylcarnitine-translocase-deficiency","sourceDocuments":[{"name":"Carnitine-acylcarnitine translocase deficiency","reviewed":"2010-11","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:03.956359+00:00","label":"Causes","pageSha256":"2de8491f72b4c095f208bfc8876af689356934657c4a229e138eadc187c29d29","sourceUrl":"https://medlineplus.gov/genetics/condition/carnitine-acylcarnitine-translocase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/carnitine-acylcarnitine-translocase-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":"Carnitine-acylcarnitine translocase deficiency"},"schemaVersion":1}