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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the BCKDHA, BCKDHB, and DBT genes can cause maple syrup urine disease. These three genes provide instructions for making proteins that work together as part of a complex. The protein complex is essential for breaking down the amino acids leucine, isoleucine, and valine, which are present in many kinds of food, particularly protein-rich foods such as milk, meat, and eggs.</p><p>Mutations in any of these three genes reduce or eliminate the function of the protein complex, preventing the normal breakdown of leucine, isoleucine, and valine. As a result, these amino acids and their byproducts build up in the body. Because high levels of these substances are toxic to the brain and other organs, their accumulation leads to the serious health problems associated with maple syrup urine disease.</p><p>Researchers are studying other genes related to the same protein complex that may also be associated with maple syrup urine disease.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Maple syrup urine disease?"},{"bodyHtml":"<p>Maple syrup urine disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still lead to delayed development and other health problems if not treated.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"maple-syrup-urine-disease","sourceDocuments":[{"name":"Maple syrup urine disease","reviewed":"2008-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:06.436616+00:00","label":"Causes","pageSha256":"84b4abff6c8d18257c9e4e2548ef74d7f70af3be1acbe0f3452c174996dc67c2","sourceUrl":"https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease"}],"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":"Maple syrup urine disease"},"schemaVersion":1}