Reviewed July 2006
What is isobutyryl-coenzyme A dehydrogenase deficiency?
Isobutyryl-coenzyme A (CoA) dehydrogenase deficiency (IBD deficiency) is a rare disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acid valine, a building block of proteins.
Babies with this deficiency will likely be healthy at birth. The signs and symptoms of this disorder may not appear until later in infancy or childhood and can include poor feeding and growth (failure to thrive), a weakened and enlarged heart (dilated cardiomyopathy), seizures, and low numbers of red blood cells (anemia). Another feature of this disorder may be very low blood levels of carnitine (a natural substance that helps convert certain foods into energy). Isobutyryl-CoA dehydrogenase deficiency may be worsened by long periods without food (fasting) or infections that increase the body's demand for energy. Some individuals with gene mutations that can cause isobutyryl-CoA dehydrogenase deficiency may never experience any signs and symptoms of the disorder.
How common is isobutyryl-coenzyme A dehydrogenase deficiency?
This disorder is very rare; fewer than 5 cases have been reported.
What genes are related to isobutyryl-coenzyme A dehydrogenase deficiency?
Mutations in the ACAD8 gene cause isobutyryl-coenzyme A dehydrogenase deficiency.
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.
Read more about the ACAD8 gene.
How do people inherit isobutyryl-coenzyme A 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 treatment for isobutyryl-coenzyme A dehydrogenase deficiency?
These resources address the management of isobutyryl-coenzyme A dehydrogenase deficiency and may include treatment providers.
You might also find information on treatment of isobutyryl-coenzyme A dehydrogenase deficiency in
Educational resources and Patient support.
Where can I find additional information about isobutyryl-coenzyme A dehydrogenase deficiency?
You may find the following resources about isobutyryl-coenzyme A 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.
- Gene Tests - DNA tests ordered by healthcare professionals
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- PubMed - Recent literature
- Online Books - Medical and science texts
What other names do people use for isobutyryl-coenzyme A dehydrogenase deficiency?
- IBD deficiency
- isobutyryl-CoA dehydrogenase deficiency
What if I still have specific questions about isobutyryl-coenzyme A 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-coenzyme A dehydrogenase deficiency?
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.