Isovaleric acidemia

Inheritance

How is Isovaleric Acidemia inherited?

Isovaleric Acidemia is inherited in an autosomal recessive pattern. This means that both copies of a person’s IVD genes must have changes for that person to have Isovaleric Acidemia. Everyone has two copies of each gene. One copy comes from the mother and the other from the father. In autosomal recessive inheritance, a disease is caused by having two nonworking copies (mutations) in the genes for the disease. Parents have one working and one nonworking copy of the gene and are called carriers. Even thought carriers have one nonworking copy, they do not have symptoms of the disease. If you would like to have genetic testing for Isovaleric Acidemia or you would like to know if you are a carrier, talk to your doctor or agenetic counselor about the best way to be tested.

In autosomal recessive inheritance, any time two parents are carriers, there is a 25% chance for any future pregnancy to also have IVA. If you already have one child with IVA, there is a 25% chance for any future pregnancy to also have IVA. Your child will be screened through your states newborn screening program to determine whether or not they are affected. You can also consider testing prenatally to find out whether the baby is affected or not. You could also consider in vitro fertilization using preimplantation genetic diagnosis to ensure you do not have another child with IVA.

References
  • http://ghr.nlm.nih.gov/condition/isovaleric-acidemia
  • http://www.omim.org/entry/243500
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What does it mean to have inherited a "variant" in the gene for Isovaleric Acidemia?

What does it mean to have inherited a "variant" in the gene for Isovaleric Acidemia?

A “variant” is another word for a change in a gene. Sometimes these changes do not cause a genetic disease or condition, and other times they do. Variants can be benign (not disease causing), pathogenic (disease causing), or of unknown significance (possibly disease causing). Looking at a person’s genetic testing report can be helpful to know what type of variant or genetic change someone has inherited for Isovaleric Acidemia. If a person has Isovaleric Acidemia, they have two different disease causing variants in their IVD genes. Meeting with a genetic counselor can help you understand your test results.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1134/
  • http://ghr.nlm.nih.gov/condition/isovaleric-acidemia

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