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deficiency","evidence":"PCS","frequency_raw":"0/1","hpo_id":"HP:0001324","is_excluded":true,"label":"Muscle weakness","onset_id":null,"reference":"PMID:9691089","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-i-deficiency\">Carnitine palmitoyltransferase I deficiency</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also caused mutations) in the CPT1A gene cause CPT I deficiency. This gene provides instructions for making an enzyme called carnitine palmitoyltransferase 1A, which is found in the liver.</p><p>Carnitine palmitoyltransferase 1A is essential for fatty acid oxidation, which is the multistep process that breaks down (metabolizes) fats and converts them into energy. During periods of fasting, fats are an important energy source for the liver and other tissues. Within liver cells, fatty acid oxidation takes place within mitochondria, which are the energy-producing centers. Before entering mitochondria, a group of fats called long-chain fatty acids must first be attached to carnitine. Carnitine palmitoyltransferase 1A connects carnitine to long-chain fatty acids so they can enter mitochondria and be metabolized to produce energy.</p><p>Variants in the CPT1A gene severely reduce or eliminate the activity of carnitine palmitoyltransferase 1A. As a result, there are not enough enzymes available to attach carnitine to long-chain fatty acids when energy demands are high. Without carnitine, these fatty acids cannot enter mitochondria to be broken down and used for energy. Reduced energy production can lead to some of the features of CPT I deficiency, such as hypoketotic hypoglycemia. Fatty acids and related compounds may also build up in cells and damage the liver, heart, and brain. This abnormal buildup causes the other signs and symptoms of CPT I deficiency.</p><p>Conditions that disrupt the metabolism of fatty acids, including CPT I deficiency, are known as fatty acid oxidation disorders.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-i-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Carnitine palmitoyltransferase I deficiency?"},{"bodyHtml":"<p>The signs and symptoms of CPT I deficiency are often brought on by episodes of increased energy demands in the body such as illness or periods of fasting. During these times, affected individuals usually develop low levels of glucose in the blood and a low level of ketones, which are normally produced when fats are broken down to be used for energy. Together, these signs are called hypoketotic hypoglycemia. This may cause individuals to experience confusion, seizures, or a lack of energy (lethargy).</p><p>People with CPT I deficiency can also develop an enlarged liver (hepatomegaly) that is not able to remove toxins from the blood efficiently. These toxins build up and can affect brain function (hepatic encephalopathy). As long as no brain damage occurs during these episodes of hepatic encephalopathy, individuals with CPT I deficiency often have normal development.</p><p>Health can decline quickly in people with CPT I deficiency. Affected individuals are encouraged to avoid prolonged fasting to prevent serious health problems. Individuals with CPT I deficiency are at risk for nervous system damage, liver failure, coma, and sudden death. These problems can begin any time between infancy to adulthood, though some individuals experience no health problems at all.</p><p>CPT I deficiency is often detected shortly after birth by newborn screening, which identifies abnormal levels of certain compounds in the blood. People with CPT I deficiency have high levels of a compound called carnitine. Cells use carnitine, a natural substance that is acquired mostly through the diet, to process fats and produce energy.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-i-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"carnitine-palmitoyltransferase-i-deficiency","sourceDocuments":[{"name":"Carnitine palmitoyltransferase I deficiency","reviewed":"2025-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:04.248915+00:00","label":"Causes","pageSha256":"f6682c9020bf3437368beaa8162fb8c4adebdb967766740e3264c4ab2afb6076","sourceUrl":"https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-i-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-i-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 palmitoyltransferase I deficiency"},"schemaVersion":1}