Adult-onset citrullinemia type II
Other Names for this Disease
- Adult-onset citrullinemia type 2
- Citrin deficiency
- Citrullinemia type 2
- Citrullinemia type II
Your QuestionI have a patient with urine citrulline levels at twice the upper limit of normal. All other urinary amino acids were low-normal. This patient has legitimate complaints of decreased energy as well. Standard CPE labs were normal. What is the typical presentation of citrullinemia type II? How is it diagnosed? How is it treated? Who is conducting research into this condition.
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Questions on this page
- What is adult-onset citrullinemia type II?
- What are the signs and symptoms of adult-onset citrullinemia type II?
- How might adult-onset citrullinemia type II be diagnosed?
- How might adult-onset citrullinemia type II be treated?
- How can I find researchers interested in adult-onset citrullinemia type II?
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.
More details regarding diagnosis of adult-onset citrullinemia type II can be accessed through GeneReviews.
GeneTests lists laboratories offering clinical genetic testing for citrullinemia type II. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues.
Additional information related to the treatment of adult-onset citrullinemia type II can be accessed through eMedicine.
For more information on the registry see: http://rarediseasesnetwork.epi.usf.edu/ucdc/takeaction/index.htm
The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. ClinicalTrials.gov lists trials that are studying or have studied Citrullinemia type II. Click on the link to go to ClinicalTrials.gov 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.
- Citrullinemia. Genetics Home Reference (GHR). 2006; http://www.ghr.nlm.nih.gov/condition=citrullinemia. Accessed 7/11/2011.
- Kobayashi K, Saheki T. Citrin Deficiency. GeneReviews. 2008; http://www.ncbi.nlm.nih.gov/books/NBK1181/. Accessed 7/11/2011.