Adult-onset citrullinemia type II
- Adult-onset citrullinemia type 2
- Citrin deficiency
- Citrullinemia type 2
- Citrullinemia type II
Tests & Diagnosis
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.
- Kobayashi K, Saheki T. Citrin Deficiency. GeneReviews. 2008; http://www.ncbi.nlm.nih.gov/books/NBK1181/. Accessed 7/11/2011.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- An ACTion (ACT) sheet for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. ACT sheets are general guidelines that describe the short-term actions a health professional should follow in talking with the family and deciding the appropriate steps in the follow-up of an infant who has screened positive on a newborn screening test. Click on the link above to view the ACT sheet.
- An Algorithm for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. Algorithms are general guidelines for healthcare providers outlining steps involved in determining the diagnosis of an infant who has screened positive on a newborn screening test. Click on the link above to view the Algorithm.
- Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
- National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.