Argininemia

Argininemia (ARG)
A Urea Cycle Disorder

Argininemia is also known as Arginase Deficiency, Hyperargininemia, ARG1 Deficiency, and Arginase Deficiency.

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What is it?
Argininemia causes arginine and ammonia to build up in the blood. This can result in toxic levels, dangerous to the nervous system.

Inheritance and Frequency
The gene defect for Argininemia is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene usually emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect.

Signs & Symptoms
Argininemia usually appears as muscle stiffness, especially in the legs. Other symptoms may include developmental delay and mental retardation.

Long Term Effects
If untreated, severe spasticity, loss of ability to walk and severe mental retardation can occur.

Treatment
Dialysis to clear the ammonia from the body, medication and dietary restrictions are used in the treatment of Argininemia.

History
Argininemia is very rare and is believed to occur in about one in 300,000 to 1,000,000 people.

Screening
Visit the What Does Your State Screen page to learn about your state's newborn screening program.

Supplemental Screening
If you live in a state that does not perform screening on its newborns for all detectable disorders, there are laboratories that will provide this screening to you no matter the state of your residence. For more information about supplemental newborn screening, visit our supplemental screening page. Also visit our frequently asked questions page for more information on newborn screening.

Other Sites of Reference

Support Groups

National Urea Cycle Disorders Foundation
4841 Hill Street
La Canada, CA 91011
Phone: 1-800-38NUCDF
Contact Person: Cynthia LeMons

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Revised 01/08/2007