Citrullinemia

Citrullinemia (CIT)
A Urea Cycle Disorder

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What is it?
Citrullinemia stems from a deficiency of Argininosuccinic acid Synthetase.

Inheritance and Frequency
It is suspected that the gene defect for Citrullinemia 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.

Approximately one in 57,000 people worldwide are affected with Citrullinemia Type I, the most common form of the disease. Citrullinemia Type II affects the Japanese population mainly, with one in 100,000 to 230,000 cases. Additional Citrullinemia Type II cases have been reported in the Middle East and in East Asia.

Signs & Symptoms
Symptoms are hyperammonemia accompanied by lack of appetite, vomiting, listlessness, seizures, and coma. Onset is usually at birth, but symptoms may not be noticeable for days or weeks.

Long Term Effects
When left untreated, brain damage, coma, and death will occur.

Treatment
Treatment may include a high-caloric, protein-restrictive diet, arginine supplementation, administration of sodium benzoate and sodium phenylacetate. Dialysis may be necessary in some affected individuals.

History

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 for you no matter the state of your residence. For more information about supplemental 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: write to Cynthia LeMons

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Revised 11/22/2006