Citrullinemia type II

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Citrullinemia type II?

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Advocacy Organizations

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).

Clinical Trials

For a list of clinical trials in this disease area, please click here.