Citrullinemia type II

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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 Data version July 2024

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Citrullinemia type II?

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Advocacy Organizations

Citrin Foundation

Citrin Foundation is a research-driven, non-profit organization set up to tackle citrin deficiency. Our goal is to ultimately find effective treatments and a cure for the condition. We fund research projects to better understand the condition and develop new therapies. We also provide support to citrin deficiency patients and their families globally.

flok Health (formerly National PKU News)

National PKU News provides resources and support for individuals, families, and clinicians managing PKU (Phenylketonuria) and other inborn errors of metabolism. Our mission is to leverage innovation, insight, and research to improve the health, well-being, and daily lives of those with PKU and other IEMs.

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Clinical Trials

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