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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the ACADM gene cause MCAD deficiency. This gene provides instructions for making an enzyme called medium-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called medium-chain fatty acids. These fatty acids are found in foods and the body&#x27;s fat tissues. 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>Mutations in the ACADM gene lead to a shortage (deficiency) of the MCAD enzyme within cells. Without sufficient amounts of this enzyme, medium-chain fatty acids are not metabolized properly. As a result, these fats are not converted to energy, which can lead to the characteristic signs and symptoms of this disorder such as lethargy and hypoglycemia. Medium-chain fatty acids or partially metabolized fatty acids may also build up in tissues and damage the liver and brain. This abnormal buildup causes the other signs and symptoms of MCAD deficiency.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/medium-chain-acyl-coa-dehydrogenase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Medium-chain acyl-CoA dehydrogenase deficiency?"},{"bodyHtml":"<p>Signs and symptoms of MCAD deficiency typically appear during infancy or early childhood and can include vomiting, lack of energy (lethargy), and low blood glucose (hypoglycemia). In rare cases, symptoms of this disorder are not recognized early in life, and the condition is not diagnosed until adulthood. People with MCAD deficiency are at risk of serious complications such as seizures, breathing difficulties, liver problems, brain damage, coma, and sudden death.</p><p>Problems related to MCAD deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/medium-chain-acyl-coa-dehydrogenase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"medium-chain-acyl-coa-dehydrogenase-deficiency","sourceDocuments":[{"name":"Medium-chain acyl-CoA dehydrogenase deficiency","reviewed":"2009-11","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:11.395902+00:00","label":"Causes","pageSha256":"0ebf8f2b680b5408af546dcadf252b203153cdace5e08f1dff2268bbf947dd48","sourceUrl":"https://medlineplus.gov/genetics/condition/medium-chain-acyl-coa-dehydrogenase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/medium-chain-acyl-coa-dehydrogenase-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":"Medium-chain acyl-CoA dehydrogenase deficiency"},"schemaVersion":1}