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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: Disorder
  • 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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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.