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Tyrosinemia type 3

Disease definition

Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.

ORPHA:69723

  • Synonym(s):
    • Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency
    • Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency
    • Tyrosinemia due to HPD deficiency
    • Tyrosinemia type III
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E70.2
  • OMIM: 276710
  • UMLS: C0268623
  • MeSH: -
  • GARD: 10332
  • MedDRA: 10069461

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