Isobutyryl-CoA+dehydrogenase

=Isobutyryl-CoA Dehydrogenase (IBD Deficiency) =

**__What is it?__ **

 * A condition that disrupts the breakdown of certain proteins since there is an inadequate level of and enzyme that helps break down a particular amino acid called valine.

**__What are the symptoms? __**
 * Most children with IBD Deficiency don't show any signs or symptoms that they have this specific disorder.
 * However, some children actually do show symptoms which include:
 * 1) A weakened and enlarged(a.k.a. [|dilated cardiomyopathy])
 * 2) Weak muscle tone (hypotonia)
 * 3) Developmental delay
 * 4) Low numbers of red blood cells ([|anemia])
 * 5) Low blood levels of carnitine

**__What causes it?__ **

 * Mutations in the ACAD8 gene
 * 1) The ACAD8 gene gives instructions for making the IBD enzyme that is involved in breaking down valine. ACAD8 mutations eliminate the activity of that enzyme and causes IBD Deficiency to appear.
 * When both gene copies from each cell inherited has mutations.

===**__Is it common? __**===
 * IBD Deficiency is very rare.
 * Approximately 22 cases have ever been reported in medical records.

** __Can it be treated? __ **

 * The proper treatment has not yet been established because of the wide variation in clinical phenotype and lack of long-term follow up.
 * It is recommended that the pediatrician keeps the patient in close collaboration.

Click on the image to learn about universal newborn screening.

****__Bibliographies__:****

1. "Isobutyryl-CoA dehydrogenase deficiency." //Genetics Home Reference//. U.S.
National Library of Medicine, 6 June 2011. Web. 9 June 2011. .//

//2. "Isobutyryl-CoA Dehydrogenase Deficiency."// PerkinElmer Genetics//. PerkinElmer, Inc., 2008. Web. 9 June 2011. .