Second Medical Opinion

Your trusted source for evidence-based medical information, reviewed by healthcare professionals

✓ Medical Professional Reviewed ✓ Evidence-Based Content ✓ Regularly Updated

Isobutyryl-CoA Dehydrogenase Deficiency

Isobutyryl-CoA Dehydrogenase Deficiency

Understanding Isobutyryl-CoA Dehydrogenase Deficiency: Symptoms, Causes, Diagnosis, and Treatment Introduction Isobutyryl-CoA dehydrogenase deficiency is a rare metabolic disorder that affects the breakdown of certain amino acids in the body. It is an inherited condition caused by mutations in the ACAD8 gene, which provides instructions for making an enzyme called isobutyryl-CoA dehydrogenase. This enzyme is essential…