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Genetic and Rare Diseases Information Center (GARD)

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Isobutyryl-CoA dehydrogenase deficiency


Other Names for this Disease
  • ACAD8 deficiency
  • Acyl-CoaA dehydrogenase family, member 8, deficiency of
  • IBD deficiency
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Your Question

My son was diagnosed with isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) at birth. He is 7 months old and very healthy with no signs or symptoms. He is being followed by a specialist, gets regular blood tests, and follows a special diet. Will this condition be with him for the rest of his life? Is there anything that we can do for him?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is isobutyryl-CoA dehydrogenase deficiency?

Isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) is an inborn error of valine (an amino acid) metabolism.[1] The symptoms, which may not develop until later in infancy or childhood, can include failure to thrive, dilated cardiomyopathy, seizures, and anemia. IBD deficiency is caused by mutations in the ACAD8 gene. It is inherited in an autosomal recessive manner.[2]
Last updated: 2/8/2010

What are symptoms of isobutyryl-CoA dehydrogenase deficiency (IBD deficiency)?

Infants with IBD deficiency usually appear healthy at birth. The signs and symptoms of IBD deficiency 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). IBD 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 IBD deficiency may never experience any signs and symptoms of the disorder.[2]
Last updated: 2/8/2010

What causes isobutyryl-CoA dehydrogenase deficiency (IBD deficiency)?

IBD deficiency is caused by mutations in the ACAD8 gene. 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.[2]
Last updated: 2/8/2010

How is isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) inherited?

IBD deficiency 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.[2]
Last updated: 2/8/2010

How is isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) treated?

There is no standard treatment protocol for IBD deficiency. Infants diagnosed through newborn screening are encouraged to work with a metabolic disease specialist and a dietician experienced in metabolic disorders. Some treatments may be recommended even if no symptoms have been observed. Treatment may be needed throughout life. The following treatments may be recommended for some babies and children with IBD deficiency.[3] 

  • Children with IBD deficiency may be helped by taking L-carnitine, a safe and natural substance which helps the body's cells make energy and get rid of harmful wastes. L-carnitine may also help to prevent or treat the heart problems and anemia seen in children with IBD deficiency.
  • Children with IBD deficiency are advised to avoid fasting. Going without food for a long time causes the body to use its stores of fat and protein for energy. In some people with IBD deficiency, this may lead to the build up of harmful substances in the blood. Eating frequently (every 4 to 6 hours) may help to avoid these health effects.
  • While most children with IBD deficiency do fine without a change in diet, a low-valine food plan might be necessary. Valine is found in all foods with protein. Foods high in valine, such as dairy products, meat, poultry, fish, eggs, dried beans and legumes, nuts and peanut butter should be limited. There are medical foods such low-protein flours, pastas, rice, and special formulas that are made especially for people with organic acid disorders. Your dietician / physician can advise you on whether you should use these foods to supplement your child’s diet.
Last updated: 2/8/2010

What happens if isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) is treated? Does it go away?

While IBD deficiency will never 'go away', it is thought that with prompt and careful treatment, children this condition will be able to live healthy lives with typical growth and development. Treatment with carnitine is believed to reverse the heart problems and anemia associated with this condition and may improve growth.[3]
Last updated: 2/8/2010

References