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Citrullinemia type II
Disease definition
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.
ORPHA:247585
Classification level: DisorderDetailed information
Article for general public
Professionals
- Summary information
- Greek (2012, pdf)
- Clinical practice guidelines
- Français (2021)
- Deutsch (2012)
- Clinical genetics review
- English (2017)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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