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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.

Synonyms: Citrullinemia type 2 Adult-onset citrullinemia type II Adult-onset citrin deficiency CTLN2 Adult-onset citrullinemia type 2

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Term information

database cross reference
hasDbXref

UMLS:C1863844

ICD-10:E72.2

OMIM:603471

notation

ORPHA:247585