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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Ethylmalonic encephalopathy results from mutations in the ETHE1 gene. This gene provides instructions for making an enzyme that is active in mitochondria, which are the energy-producing centers in cells. The ETHE1 enzyme is part of a pathway that breaks down sulfide (H2S), a molecule that is critical at very low levels for normal cell functioning but is toxic at high levels. Excess sulfide interferes with numerous cell activities, including mitochondrial energy production.</p><p>Mutations in the ETHE1 gene lead to the production of a nonfunctional version of the enzyme or prevent any enzyme from being made. A shortage of functional ETHE1 enzyme prevents sulfide from being broken down, allowing this molecule to accumulate in cells. The buildup of sulfide interferes with the ability of mitochondria to produce energy and damages tissues and organs throughout the body. Researchers believe that the effects of excess sulfide in the brain, muscles, blood vessels, and lining of the intestines underlie most of the major features of ethylmalonic encephalopathy.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/ethylmalonic-encephalopathy/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Ethylmalonic encephalopathy?"},{"bodyHtml":"<p>The signs and symptoms of ethylmalonic encephalopathy are apparent at birth or begin in the first few months of life. Problems with the nervous system typically worsen over time, and most affected individuals survive only into early childhood.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/ethylmalonic-encephalopathy\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"ethylmalonic-encephalopathy","sourceDocuments":[{"name":"Ethylmalonic encephalopathy","reviewed":"2017-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:16.201975+00:00","label":"Causes","pageSha256":"e4d601c841d44835339059aad4bb799dbc752391a84990906033fb6049c3abf6","sourceUrl":"https://medlineplus.gov/genetics/condition/ethylmalonic-encephalopathy/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/ethylmalonic-encephalopathy"}],"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":"Ethylmalonic encephalopathy"},"schemaVersion":1}