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Genetics Home Reference: your guide to understanding genetic conditions
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Isobutyryl-CoA dehydrogenase deficiency

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.

Related Gene(s)

Changes in this gene are associated with isobutyryl-CoA dehydrogenase deficiency.

  • ACAD8

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.

  • Baby's First Test (http://www.babysfirsttest.org/newborn-screening/conditions/isobutyrylglycinuria)
  • Genetic Testing Registry: Deficiency of isobutyryl-CoA dehydrogenase (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1969809)
  • MedlinePlus Encyclopedia: Dilated Cardiomyopathy (http://www.nlm.nih.gov/medlineplus/ency/article/000168.htm)

You might also find information on the diagnosis or management of isobutyryl-CoA dehydrogenase deficiency in Educational resources (http://www.ghr.nlm.nih.gov/condition/isobutyryl-coa-dehydrogenase-deficiency/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/isobutyryl-coa-dehydrogenase-deficiency/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) 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?

  • deficiency of isobutyryl-CoA dehydrogenase
  • IBD deficiency
  • isobutyryl-coenzyme A dehydrogenase deficiency

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about isobutyryl-CoA dehydrogenase deficiency?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding isobutyryl-CoA dehydrogenase deficiency?

acids ; amino acid ; anemia ; asymptomatic ; autosomal ; autosomal recessive ; breakdown ; cardiomyopathy ; carnitine ; cell ; CoA ; coenzyme A ; congenital ; deficiency ; dehydrogenase ; developmental delay ; dilated ; enzyme ; gene ; hypotonia ; inherited ; muscle tone ; newborn screening ; recessive ; screening ; valine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Koeberl DD, Young SP, Gregersen NS, Vockley J, Smith WE, Benjamin DK Jr, An Y, Weavil SD, Chaing SH, Bali D, McDonald MT, Kishnani PS, Chen YT, Millington DS. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. Pediatr Res. 2003 Aug;54(2):219-23. Epub 2003 May 7. (http://www.ncbi.nlm.nih.gov/pubmed/12736383?dopt=Abstract)
  • Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J. Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. Mol Genet Metab. 2002 Sep-Oct;77(1-2):68-79. (http://www.ncbi.nlm.nih.gov/pubmed/12359132?dopt=Abstract)
  • Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D. Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet Med. 2007 Feb;9(2):108-16. (http://www.ncbi.nlm.nih.gov/pubmed/17304052?dopt=Abstract)
  • Pedersen CB, Bischoff C, Christensen E, Simonsen H, Lund AM, Young SP, Koeberl DD, Millington DS, Roe CR, Roe DS, Wanders RJ, Ruiter JP, Keppen LD, Stein Q, Knudsen I, Gregersen N, Andresen BS. Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening. Pediatr Res. 2006 Sep;60(3):315-20. Epub 2006 Jul 20. (http://www.ncbi.nlm.nih.gov/pubmed/16857760?dopt=Abstract)
  • Roe CR, Cederbaum SD, Roe DS, Mardach R, Galindo A, Sweetman L. Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism. Mol Genet Metab. 1998 Dec;65(4):264-71. (http://www.ncbi.nlm.nih.gov/pubmed/9889013?dopt=Abstract)
  • Sass JO, Sander S, Zschocke J. Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants. J Inherit Metab Dis. 2004;27(6):741-5. (http://www.ncbi.nlm.nih.gov/pubmed/15505379?dopt=Abstract)
  • Yoo EH, Cho HJ, Ki CS, Lee SY. Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening. Clin Chem Lab Med. 2007;45(11):1495-7. (http://www.ncbi.nlm.nih.gov/pubmed/17924841?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: June 2010
Published: December 16, 2014