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Urocanic aciduria

Disease definition

A rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia.

ORPHA:210128

Classification level: Disorder
  • Synonym(s):
    • Encephalopathy due to urocanase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E70.8
  • ICD-11: 5C50.21
  • OMIM: 276880
  • UMLS: C0268514
  • MeSH: C536479
  • GARD: 8539
  • MedDRA: -

  A summary on this disease is available in Deutsch (2012) Español (2012) Italiano (2012) Nederlands (2012)

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