Isobutyryl-CoA Dehydrogenase (IBD) deficiency

Gene
ACAD8
Location
11q25
Disease
Isobutyryl-CoA Dehydrogenase (IBD) deficiency
Description
Isobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the breakdown of certain proteins.
Signs and Symptoms
Most effected individuals do not experience symptoms. A few children with IBD deficiency have developed features such as a weakened and enlarged heart, weak muscle tone, developmental delay, and anemia.
Type
Organic Acid Disorder
Category
Core

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