Neonatal intrahepatic cholestasis caused by citrin deficiency

Why is adult-onset citrullinemia type ll so common in Japan?

Some genetic disorders are more likely to occur among people who trace their ancestry to a particular geographic area. People in an ethnic group often share certain versions of their genes, which have been passed down from common ancestors. If one of these shared genes contains a disease-causing mutation, a particular genetic disorder may be more frequently seen in the group.

This is similar to what is seen in sickle cell anemia, which is more common in people of African, African-American, or Mediterranean heritage and Tay-Sachs disease, which is more likely to occur among people of Ashkenazi (eastern and central European) Jewish or French Canadian ancestry.

In addition, this condition has been most frequently reported in Japan and was initially described in that country, probably leading to a heightened clinical awareness not shared in the United States [and elsewhere]. Thus, the disorder could be significantly more common in other countries than originally believed.

Last updated on 05-01-20

Where can I find graphical data on the worldwide prevalence of citrullinemia?

We are not aware of any resources which graphically present the worldwide prevalence of citrullinemia. According to the Genetics Home Reference page on this topic, classic citrullinemia is the most common form of the disorder, affecting about 1 in 57,000 people worldwide. Adult onset citrullinemia type ll is found primarily in the Japanese population, where it occurs in an estimated 1 in 100,000 to 230,000 individuals. Type ll also has been reported in other populations, including people from East Asia and the Middle East.

Last updated on 05-01-20

What is the prognosis for individuals with adult-onset citrullinemia type ll?

The prognosis for individuals with adult-onset citrullinemia type ll varies. In babies, the signs and symptoms usually resolve on their own. In adults, treatment may reduce the signs and symptoms of the condition. As adult-onset citrullinemia type ll can cause severe liver problems, untreated adults may need a liver transplant.

Last updated on 05-01-20

Newborn Screening

Citrullinemia 2

The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.

Last updated on 04-27-20

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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