3-Hydroxyisobutyrl-CoA hydrolase deficiency is a rare genetic disorder that mainly involves problems with the metabolism. The metabolism is how the body breaks down food and converts it into energy that it can use. 3-Hydroxyisobutyrl-CoA hydrolase usually works to remove a toxic substance from the part of the cells that turns food into energy. For individuals with this condition, the hydrolase does not work the way it should, and this causes problems.
In individuals with 3-hydroxyisobutyrl-CoA hydrolase deficiency, a lot of acid builds up in the body. There is damage to part of the brain called the basal ganglia, which plays an important role in movement. Symptoms of this condition include abdominal pain, confusion, being tired, fast breathing, loss of appetite, nausea and vomiting, being lightheaded, being thirsty, slowed movements, muscle spasms, trouble finding the right word, shaking, repeated movements, and trouble walking. Individuals with this condition also have problems in mental development and muscle development and may experience brain cell death.
3-Hydroxyisobutyrl-CoA hydrolase deficiency is inherited (passed through families) in an autosomal recessive manner. We inherit our genes in pairs, typically one from each parent. Our genes are what control the growth, development, and function of our bodies. If a mistake or error occurs in a gene, it can cause problems. Autosomal recessive means that an individual must inherit two copies of the changed (mutated) gene, one from each parent, in order to have the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers, each child has a one in four chance (25%) of having the condition.
If you or a family member has been diagnosed with 3-hydroxyisobutyrl-CoA hydrolase deficiency, talk with your doctor about the most current treatment options.
Description Last Updated: Feb 18, 2018