Argininosuccinic aciduria


How is argininosuccinic aciduria inherited?

Argininosuccinic aciduria is inherited in an autosomal recessive manner. This is one way a disorder or trait can be passed down through a family. Everyone has two copies of the ASL gene; one received from their father and one from their mother. Autosomal recessive inheritance means that a person receives a nonworking copy of the ASL gene from both parents. The parents have one working copy of the gene and one nonworking copy; they are carriers for argininosuccinic aciduria. Carriers do not develop symptoms of the disorder. If two people are carriers, there is a 25% chance with each pregnancy that their child will have the disorder and a 50% chance their child will also be a carrier for the disorder. There is also a 25% chance that the child will not have the disorder and will not be a carrier. If you have a family member with argininosuccinic aciduria and you would like to know if you are a carrier, talk to your doctor or meet with a genetic counselor to discuss testing options. Genetic counselors can be found on the National Society of Genetic Counselors website in the United States, and in Canada at the Canadian Association of Genetic Counsellors website.

Haberle J. Argininosuccinic aciduria. OrphaNet website. Accessed July 1, 2017.

argininosuccinic aciduria. Genetics Home Reference website. Accessed July 1, 2017.

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