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Diseases

Genetic and Rare Diseases Information Center (GARD)

Adult-onset citrullinemia type II


Other Names for this Disease
  • Citrullinemia type II
  • Citrullinemia type 2
  • Adult-onset citrullinemia type 2
  • CTLN2
  • Citrin deficiency
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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How might adult-onset citrullinemia type II be diagnosed?

The diagnosis of adult-onset citrullinemia type II is suspected based in clinical and biochemical findings. Clinically, the condition is characterized by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms. Confirmation can be made through molecular genetic testing. SLC25A13 is the only gene known to be associated with citrullinemia type II.[1]

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.

Last updated: 7/11/2011

References
  1. Kobayashi K, Saheki T. Citrin Deficiency. GeneReviews. 2008; http://www.ncbi.nlm.nih.gov/books/NBK1181/. Accessed 7/11/2011.


Testing

  • 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.

Newborn Screening

  • An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.
  • An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics.
  • 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.
Other Names for this Disease
  • Citrullinemia type II
  • Citrullinemia type 2
  • Adult-onset citrullinemia type 2
  • CTLN2
  • Citrin deficiency
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.