Argininemia

Inheritance

How is argininemia inherited?

Argininemia 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 ARG1 gene; one received from their father and one from their mother. Autosomal recessive inheritance means that a person receives a nonworking copy of the ARG1 gene from both parents. The parents have one working copy of the gene and one nonworking copy; they are carriers for argininemia. Carriers do not develop symptoms of the disorder. If two people are carriers, there is a 25% chance with each pregnancy that the child will have the disorder and a 50% chance the child will also be a carrier for the disorder. If you have a family member with argininemia 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.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/argininemia/inheritance/36489 • DATE UPDATED: 2019-06-17

References

Arginase Deficiency. The National Organization for Rare Disorders website. https://rarediseases.org/rare-diseases/arginase-deficiency

Arginase Deficiency. Genetics Home Reference website. https://ghr.nlm.nih.gov/condition/arginase-deficiency

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