What genetic changes cause Isovaleric Acidemia?
Isovaleric Acidemia is caused by genetic changes in the IVD gene. Genetic changes in the IVD gene prevent an enzyme called isovaleric acid-CoA dehydrogenase in the body from being made. The missing isovaleric acid-CoA dehydrogenase causes the abnormal buildup of organic acids in the body. This problem with the build up of organic acids causes health problems for people with isovaleric academia. In order to have Isovaleric Acidemia you must have two genetic changes in the IVD gene. Typically, one genetic change comes from the mother and one comes from the father. This is called autosomal recessive inheritance.
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What happens because of genetic changes that can cause Isovaleric Acidemia?
Genetic changes in the IVD gene prevent an enzyme called isovaleric acid-CoA dehydrogenase in the body from being made. This lack of enzyme causes an abnormal buildup of organic acids in the body. This problem with the build up of organic acids causes health problems for people with isovaleric acidemia such as poor feeding, vomiting, seizures, a lack of energy (lethargy), difficulty gaining weight or growing, and developmental delays. If you or someone you know has these symptoms, ask your doctor about how go get tested for Isovaleric Acidemia.
Does anything make Isovaleric Acidemia worse?
As of June 2016, there are no known environmental, pharmaceutical (drug), or other factors that may make isovaleric acidemia more severe. If you have isovaleric acidemia, you can check with your doctor to see if research has uncovered any factors that make isovaleric acidemia worse.
Symptoms of isovaleric academia can become worse if you do not follow your dietician/geneticist's dietary recommendations. People who have IVA are recommended to be on special diets that restrict the amount of leucine they eat. Leucine is found in many different foods. Supplements may be recommended called L-carnitine and glycine that will also help to prevent too much leucine from building up in the body. People who have too much leucine in their body can have "metabolic crisis" and get very sick. The more metabolic crisis a person has, the more their IVA can affect them. It is important to listen your doctors recommendations as this will try to prevent people who have IVA from their symptoms getting worse.
Are genetic changes in the IVD gene a predisposition or a cause for Isovaleric Acidemia?
Genetic changes in the IVD gene are the cause of isovaleric acidemia. Everyone with two genetic changes in the IVD gene will develop symptoms although some will be more mildly affected and others may be more severely affected. Meeting with a genetic counselor can help you learn more about the gene changes that cause isovaleric acidemia.