Isobutyryl-CoA dehydrogenase deficiency

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.

Last updated on 05-01-20

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

IBD deficiency is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:

  • 25% (1 in 4) chance to be affected,
  • 50% (1 in 2) chance to be an unaffected carrier like each parent,
  • 25% (1 in 4) chance to be unaffected and not be a carrier.

Last updated on 05-01-20

What is isobutyryl-CoA dehydrogenase deficiency?

Isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) is an inborn error of valine (an amino acid) metabolism. 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. Treatment may include the use of L-carnitine (a safe and natural substance that helps the body's cells make energy), frequent meals, and a low-valine diet.

Last updated on 05-01-20

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.

  • 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.
  • Some infants and children with IBD deficiency may be 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 on 05-01-20

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.

Last updated on 05-01-20

Newborn Screening

Isobutyryl-CoA dehydrogenase deficiency

The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.

Last updated on 04-27-20

Name: Organic Acidemia Association 9040 Duluth Street
Golden Valley, MN, 55427, United States
Phone: 763-559-1797 Fax : 866-539-4060 Email: mkstagni@gmail.com Url: http://www.oaanews.org/

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