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Isobutyryl-CoA dehydrogenase deficiency
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Reviewed June 2010
What is isobutyryl-CoA dehydrogenase deficiency?
Isobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the breakdown of certain proteins. Normally, proteins from food are broken down into parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with IBD deficiency have inadequate levels of an enzyme that helps break down a particular amino acid called valine.
Most people with IBD deficiency are asymptomatic, which means they do not have any signs or symptoms of the condition. A few children with IBD deficiency have developed features such as a weakened and enlarged heart (dilated cardiomyopathy), weak muscle tone (hypotonia), and developmental delay. This condition may also cause low numbers of red blood cells (anemia) and very low blood levels of carnitine, which is a natural substance that helps convert certain foods into energy. The range of signs and symptoms associated with IBD deficiency remains unclear because very few affected individuals have been reported.
How common is isobutyryl-CoA dehydrogenase deficiency?
IBD deficiency is a rare disorder; approximately 22 cases have been reported in the medical literature.
What genes are related to isobutyryl-CoA dehydrogenase deficiency?
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.
Read more about the ACAD8 gene.
How do people inherit isobutyryl-CoA dehydrogenase deficiency?
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.
Where can I find information about diagnosis or management of isobutyryl-CoA dehydrogenase deficiency?
These resources address the diagnosis or management of isobutyryl-CoA dehydrogenase deficiency and may include treatment providers.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.
Where can I find additional information about isobutyryl-CoA dehydrogenase deficiency?
You may find the following resources about isobutyryl-CoA dehydrogenase deficiency helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
What other names do people use for isobutyryl-CoA dehydrogenase deficiency?
What if I still have specific questions about isobutyryl-CoA dehydrogenase deficiency?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding isobutyryl-CoA dehydrogenase deficiency?
acids ; amino acid ; anemia ; asymptomatic ; autosomal ; autosomal recessive ; cardiomyopathy ; carnitine ; cell ; CoA ; coenzyme A ; congenital ; deficiency ; dehydrogenase ; developmental delay ; dilated ; enzyme ; gene ; hypotonia ; muscle tone ; newborn screening ; recessive ; screening
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.