Breadcrumb

  1. Inicio
  2. Short/branched chain acyl-CoA dehydrogenase deficiency

Short/branched chain acyl-CoA dehydrogenase deficiency

(Short • branched • chain • ace-uhl • koh-AY • dee-hie-DRAH-juh-nace • di-FISH-uhn-see)

General Condition Information

Other Names

  • 2 methylbutyryl glycinuria
  • 2 methylbutyryl-CoA dehydrogenase deficiency
  • 2 Methylbutyrylglycinuria
  • 2- methylbutyryl-CoA dehydrogenase def.
  • 2-methyl butyryl-CoA dehydrogenase deficiency
  • 2-methylbutyryl CoA dehydrogenase deficiency
  • 2-methylbutyryl coA dehydrogenase deficiency
  • 2-methylbutyryl-CoA dehydrogenase deficiency
  • 2-methylbutyrylglycinuria

Condition Type

Birth Prevalence

  • It is unknown how many babies are born with this rare condition each year in the United States.
  • This condition is more common in Hmong or Laotian babies.

Screening Finding

Elevated C5 acylcarnitine

What is Short/branched chain acyl-CoA dehydrogenase deficiency

Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency is an inherited (genetic) condition. SBCAD is the name of an enzyme in your body that helps you digest a part of some proteins called isoleucine.

Without enough of this enzyme, the body has trouble digesting proteins that have isoleucine. It does not appear that this is harmful, as babies with SBCAD deficiency have very few, if any, signs and symptoms.

Newborn Screening and Follow-Up

Condition Details

Treatment and Management

Most babies with SBCAD deficiency will not need treatment.

If your baby does have signs and symptoms of SBCAD deficiency, it is important to talk to your health care provider about which treatment(s), if any, your baby needs.

Date Last Reviewed: