Isobutyryl-CoA+dehydrogenase

=Isobutyryl-CoA dehydrogenase Deficiency (IBD)=

Isobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the breakdown of certain proteins. Most specifically, those suffering from IBD have inadequate levels of an enzyme that helps break down a particular amino acid called valine. This causes an increase in valine concentration in the urine.

Those suffering from IBD are asymptomatic, which means they do not have any signs or symptoms of the condition. A few children with IBD deficiency have developed features such as a weakened and enlarged heart (dilated cardiomyopathy), weak muscle tone (hypotonia), and developmental delay. This condition may also cause low numbers of red blood cells (anemia) and very low blood levels of carnitine. The different specific symptoms of IBD remain unclear due to the low number of affected individuals reporting these symptoms. Only 22 cases of Isobutyryl-CoA dehydrogenase deficiency have ever been reported. Mutations in the ACAD8 gene cause IBD deficiency. This gene provides instructions for making the IBD enzyme, which is involved in breaking down valine. The mutated gene is recessive, and will only appear in offspring where both parents are either heterozygous for the disease or have the disorder themselves, ergo, homozygous for the recessive mutation.