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Citrullinemia type II

Disease definition

Citrullinemia type II is a severe subtype of citrin deficiency (see this term) 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

  • Synonym(s):
    • Adult-onset citrin deficiency
    • Adult-onset citrullinemia type 2
    • Adult-onset citrullinemia type II
    • CTLN2
    • Citrullinemia type 2
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: E72.2
  • OMIM: 603471
  • UMLS: C1863844
  • MeSH: -
  • GARD: 10215
  • MedDRA: -

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