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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the ACAD8 gene cause IBD deficiency. This gene provides instructions for making the IBD enzyme. This enzyme is found in mitochondria, which are the energy producing centers inside cells. Within mitochondria, the IBD enzyme is involved in breaking down valine. Specifically, this enzyme functions in the third step of this process, which converts the molecule isobutyryl-CoA to the molecule methacrylyl-CoA. This is a critical step in the process of converting the energy from food into a form that cells can use.</p><p>ACAD8 gene variants reduce or eliminate the activity of the IBD enzyme. As a result, valine cannot be broken down properly. This may lead to reduced energy production and cause the features of IBD deficiency in some people.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/isobutyryl-coa-dehydrogenase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Isobutyryl-CoA dehydrogenase deficiency?"},{"bodyHtml":"<p>Most people with IBD deficiency are asymptomatic, which means that they do not have any signs or symptoms of the condition. If signs or symptoms do appear, they typically show early in life and only last for a short period of time. These signs and symptoms can include weak muscle tone (hypotonia), developmental delays, slow growth, a low number of red blood cells (anemia), and seizures. Because IBD deficiency is rare and often does not cause signs and symptoms, it is difficult to know if the health problems seen in affected individuals are caused by this condition or if those health problems are unrelated to the condition. It is also unclear whether IBD deficiency causes health problems later in life.</p><p>Newborn screening, which identifies abnormal levels of certain compounds in the blood, can detect IBD deficiency. People with IBD deficiency have high levels of a compound called carnitine (specifically a form called C4-acylcarnitine). Cells use carnitine, a natural substance that is acquired mostly through the diet, to process fats and produce energy.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/isobutyryl-coa-dehydrogenase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"isobutyryl-coa-dehydrogenase-deficiency","sourceDocuments":[{"name":"Isobutyryl-CoA dehydrogenase deficiency","reviewed":"2025-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:30.917563+00:00","label":"Causes","pageSha256":"b984d46dc9b48a7e45b449c052cb727d28e1d89eeb7f15bb52c091db252da8ae","sourceUrl":"https://medlineplus.gov/genetics/condition/isobutyryl-coa-dehydrogenase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/isobutyryl-coa-dehydrogenase-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":"Isobutyryl-CoA dehydrogenase deficiency"},"schemaVersion":1}