Question: What causes Isobutyryl-CoA dehydrogenase deficiency ?
Answer: What causes isobutyryl-CoA dehydrogenase deficiency (IBD deficiency)? IBD deficiency is caused by mutations in the ACAD8 gene. The ACAD8 gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, the enzyme is responsible for processing valine, an amino acid that is part of many proteins. If a mutation in the ACAD8 gene reduces or eliminates the activity of this enzyme, the body is unable to break down valine properly. As a result, poor growth and reduced energy production may occur.
Source: GARD