Question: How many people are affected by isobutyryl-CoA dehydrogenase deficiency ?
Answer: IBD deficiency is a rare disorder; approximately 22 cases have been reported in the medical literature.
Source: GHR

Question: What are the genetic changes related to isobutyryl-CoA dehydrogenase deficiency ?
Answer: Mutations in the ACAD8 gene cause IBD deficiency. This gene provides instructions for making the IBD enzyme, which is involved in breaking down valine. ACAD8 gene mutations reduce or eliminate the activity of the IBD enzyme. As a result, valine is not broken down properly. Impaired processing of valine may lead to reduced energy production and the features of IBD deficiency.
Source: GHR

Question: Is isobutyryl-CoA dehydrogenase deficiency inherited ?
Answer: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Source: GHR

Question: What are the treatments for isobutyryl-CoA dehydrogenase deficiency ?
Answer: These resources address the diagnosis or management of isobutyryl-CoA dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of isobutyryl-CoA dehydrogenase - MedlinePlus Encyclopedia: Dilated Cardiomyopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR