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Isobutyryl-CoA dehydrogenase deficiency

(ie-soh-BYOO-tuh-ruhl • koh-AY • dee-hie-DRAH-juh-nace • di-FISH-uhn-see)

General Condition Information

Other Names

  • Isobutyryl CoA dehydrogenase deficiency
  • Isobutyryl glycinuria
  • Isobutyrylglycinuria
  • Isobutyrylglycinuria (Isobutyryl-CoA dehydrogenase deficiency)

Condition Type

Birth Prevalence

It is unknown how many babies are born with this rare condition each year in the United States.

Screening Finding

Elevated C4 acylcarnitine

What is isobutyryl-coa dehydrogenase deficiency

Isobutyryl-CoA dehydrogenase (IBD) deficiency is an inherited (genetic) condition that prevents the body from breaking down certain proteins. IBD is an enzyme that helps you digest a part of some proteins called valine. 

Without enough of this enzyme, the body may have trouble breaking down proteins that contain valine. Typically, babies with IBD deficiency have very few, if any, signs and symptoms. In fact, most health care providers do not think that IBD deficiency needs treatment. 

Newborn Screening and Follow-Up

Condition Details

Treatment and Management

Babies and children with IBD deficiency typically do not need any treatment. If your baby does have signs and symptoms of IBD deficiency, it is important to talk to your health care provider about which treatment(s), if any, are best for your baby. 

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