Citrullinemia type II

What is adult-onset citrullinemia type II?

Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life- threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake. The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia. Adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.

Last updated on 05-01-20

How can I find researchers interested in adult-onset citrullinemia type II?

The Urea Cycle Disorders Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the US, working together to improve the lives of people with Urea Cycle Disorders. The Urea Cycle Disorders Consortium maintains a registry for patients who wish to be contacted about clinical research opportunities.

For more information on the registry see:

The U.S. National Institutes of Health, through the National Library of Medicine, developed to provide patients, family members, and members of the public with current information on clinical research studies. lists trials that are studying or have studied Citrullinemia type II. Click on the link to go to to read descriptions of these studies and access contact information for the associated researchers.

In addition, there is a study titled Study of Treatment and Metabolism in Patients With Urea Cycle Disorders which may be of interest to you. To find this trial, click on the highlighted text.

Last updated on 05-01-20

How might adult-onset citrullinemia type II be treated?

Liver transplantation for adult-onset citrullinemia type II prevents hyperammonemic crises, corrects metabolic disturbances, and eliminates preferences for protein-rich foods. Administration of arginine decreases blood ammonia concentration. Reduction in calorie and/or carbohydrate intake can lessen high triglycerides. Individuals with adult-onset citrullinemia type II are encouraged to consume a diet rich in lipids and protein and low in carbohydrates. This may help to prevent hyperammonemia.

Additional information related to the treatment of adult-onset citrullinemia type II can be accessed through eMedicine.

Last updated on 05-01-20

Name: Metabolic Support UK 5 Hilliards Court Sandpiper Way
Chester Business Park
Chester, CH4 9QP, United Kingdom
Phone: 0845 241 2173 Toll Free: 0800 652 3181 Email: Url:
Name: Save Babies Through Screening Foundation, Inc P.O. Box 2313
Palm Harbor, FL, 34682-2313, United States
Toll Free: 888-454-3383 Email: Url:
Name: National Urea Cycle Disorders Foundation 75 South Grand Avenue
Pasadena, CA, 91105, United States
Phone: +1-626-578-0833 Toll Free: 800-38-NUDCF (386-8233) Email: Url:

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