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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the MLYCD gene cause malonyl-CoA decarboxylase deficiency. The MLYCD gene provides instructions for making an enzyme called malonyl-CoA decarboxylase. Malonyl-CoA decarboxylase is responsible for the chemical reaction that converts a molecule called malonyl-CoA into a molecule called acetyl-CoA, which is then used to make new fatty acids. Many tissues, including the heart and brain, use fatty acids as a major source of energy. When malonyl-CoA decarboxylase is not active, malonyl-CoA stops other enzymes from breaking down fatty acids.</p><p>Pathogenic variants in the MLYCD gene prevent malonyl-CoA decarboxylase from functioning properly. A shortage of functional malonyl-CoA decarboxylase disrupts the normal balance of fatty acid formation and breakdown in the body. Without enough functional enzyme, malonyl-CoA cannot be converted to acetyl-CoA, which leads to a buildup of malonyl-CoA. When too much malonyl-CoA is present, fatty acids are not converted to energy. This seems to have a particular impact on the brain and heart, although it is unclear how the specific features of malonyl-CoA decarboxylase deficiency, such as cardiomyopathy and developmental delays, occur.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/malonyl-coa-decarboxylase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Malonyl-CoA decarboxylase deficiency?"},{"bodyHtml":"<p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/malonyl-coa-decarboxylase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"malonyl-coa-decarboxylase-deficiency","sourceDocuments":[{"name":"Malonyl-CoA decarboxylase deficiency","reviewed":"2010-01","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:04.761423+00:00","label":"Causes","pageSha256":"deb1905fc910ff1c4afd26d364fc91a0545d39a60e97f3e283d42b8f94686ce3","sourceUrl":"https://medlineplus.gov/genetics/condition/malonyl-coa-decarboxylase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/malonyl-coa-decarboxylase-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":"Malonyl-CoA decarboxylase deficiency"},"schemaVersion":1}