Citrullinemia type II
Synonyms: Adult-onset citrin deficiency | Adult-onset citrullinemia type 2 | Adult-onset citrullinemia type II | CTLN2 | Citrullinemia type 2
A severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age) recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium confusion restlessness disorientation drowsiness memory loss abnormal behavior (aggression irritability and hyperactivity) seizures and coma.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Citrullinemia type II?
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Global Liver Institute
To improve the lives of individuals and families impacted by liver disease through promoting innovation, encouraging collaboration, and scaling optimal approaches to help eradicate liver diseases.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
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