Isobutyryl-CoA dehydrogenase deficiency
- IBD deficiency
- ACAD8 deficiency
- Acyl-CoaA dehydrogenase family, member 8, deficiency of
Your QuestionMy 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?
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Questions on this page
- What is isobutyryl-CoA dehydrogenase deficiency?
- What are symptoms of isobutyryl-CoA dehydrogenase deficiency (IBD deficiency)?
- What causes isobutyryl-CoA dehydrogenase deficiency (IBD deficiency)?
- How is isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) inherited?
- How is isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) treated?
- What happens if isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) is treated? Does it go away?
- 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.
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.
- Isobutyryl-CoA dehydrogenase deficiency. Orphanet. 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79159.
- Isobutyryl-CoA dehydrogenase deficiency. Genetics Home Reference (GHR). June 2010; https://ghr.nlm.nih.gov/condition/isobutyryl-coa-dehydrogenase-deficiency.
- Organic Acid Oxidation Disorders : Isobutyryl-CoA dehydrogenase deficiency. Screening, Technology and Research in Genetics (STAR-G). April 20, 2016; http://www.newbornscreening.info/Parents/organicaciddisorders/ICoA.html.