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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the IVD gene cause isovaleric acidemia. The IVD gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, this enzyme helps process the amino acid leucine, which is part of many proteins. If a mutation in the IVD gene reduces or eliminates the activity of this enzyme, the body is unable to break down leucine properly. As a result, an organic acid called isovaleric acid and related compounds build up to harmful levels in the body. This buildup damages the brain and nervous system, causing serious health problems.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/isovaleric-acidemia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Isovaleric acidemia?"},{"bodyHtml":"<p>Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with isovaleric acidemia have inadequate levels of an enzyme that helps break down a particular amino acid called leucine.</p><p>Health problems related to isovaleric acidemia range from very mild to life-threatening. In severe cases, the features of isovaleric acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, seizures, and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including seizures, coma, and possibly death. A characteristic sign of isovaleric acidemia is a distinctive odor of sweaty feet during acute illness. This odor is caused by the buildup of a compound called isovaleric acid in affected individuals.</p><p>In other cases, the signs and symptoms of isovaleric acidemia appear during childhood and may come and go over time. Children with this condition may fail to gain weight and grow at the expected rate (failure to thrive) and often have delayed development. In these children, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), infections, or eating an increased amount of protein-rich foods.</p><p>Some people with gene mutations that cause isovaleric acidemia are asymptomatic, which means they never experience any signs or symptoms of the condition.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/isovaleric-acidemia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"isovaleric-acidemia","sourceDocuments":[{"name":"Isovaleric acidemia","reviewed":"2020-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:34.210628+00:00","label":"Causes","pageSha256":"59bbb10474e53e65b6bf8c2687c140b2f51c73cb1027d74951c00993b3e8ccc9","sourceUrl":"https://medlineplus.gov/genetics/condition/isovaleric-acidemia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/isovaleric-acidemia"}],"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":"Isovaleric acidemia"},"schemaVersion":1}