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Urocanic aciduria

Disease definition

Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.

ORPHA:210128

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

Additional information

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