SNP Shot: Genomic Insights

Isobutyryl-CoA dehydrogenase (IBD) deficiency is a metabolic disorder that impairs the body's ability to process certain proteins. Typically, dietary proteins are broken down into amino acids, which are then further processed to generate energy for growth and development. Individuals with IBD deficiency have insufficient levels of an enzyme necessary for breaking down the amino acid valine.

The majority of individuals with IBD deficiency are asymptomatic, meaning they exhibit no noticeable signs or symptoms. However, a small number of children with IBD deficiency have presented with complications such as dilated cardiomyopathy (an enlarged and weakened heart), hypotonia (weak muscle tone), and developmental delays. The condition can also lead to anemia (low red blood cell count) and very low levels of carnitine in the blood. Carnitine is a naturally occurring substance that aids in converting specific foods into energy. The full spectrum of signs and symptoms associated with IBD deficiency is still being investigated due to the limited number of reported cases.

Inheritance:

IBD deficiency follows an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. The parents, each carrying a single copy of the mutated gene, are usually asymptomatic carriers.