Citrullinemia type II
ORPHA:247585· ICD-10 E72.2
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.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Adult