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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>AMACR deficiency is caused by mutations in the AMACR gene. This gene provides instructions for making an enzyme called alpha-methylacyl-CoA racemase (AMACR).</p><p>The AMACR enzyme is found in the energy-producing centers in cells (mitochondria) and in cell structures called peroxisomes. Peroxisomes contain a variety of enzymes that break down many different substances, including fatty acids and certain toxic compounds. They are also important for the production (synthesis) of fats (lipids) used in digestion and in the nervous system. In peroxisomes, the AMACR enzyme plays a role in the breakdown of a fatty acid called pristanic acid, which comes from meat and dairy foods in the diet. In mitochondria, AMACR is thought to help further break down the molecules derived from pristanic acid.</p><p>Most individuals with AMACR deficiency have an AMACR gene mutation that results in a lack (deficiency) of functional enzyme. The enzyme deficiency leads to accumulation of pristanic acid in the blood. However, it is unclear how this accumulation is related to the specific signs and symptoms of AMACR deficiency.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/alpha-methylacyl-coa-racemase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Alpha-methylacyl-CoA racemase deficiency?"},{"bodyHtml":"<p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/alpha-methylacyl-coa-racemase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"alpha-methylacyl-coa-racemase-deficiency","sourceDocuments":[{"name":"Alpha-methylacyl-CoA racemase deficiency","reviewed":"2013-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:17.330041+00:00","label":"Causes","pageSha256":"3aeaa3bde4aa5a60cb4d39cac3998eddd6687289a444323f5bfc07c472de7b28","sourceUrl":"https://medlineplus.gov/genetics/condition/alpha-methylacyl-coa-racemase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/alpha-methylacyl-coa-racemase-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":"Alpha-methylacyl-CoA racemase deficiency"},"schemaVersion":1}