5C50.12
Tyrosinaemia type 2
Tirosinemia tipo 2
CategoryDefinition
Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterised by hypertyrosinemia with oculocutaneous manifestations (eye redness, photophobia, excessive tearing and pain, palmoplantar hyperkeratosis) and, in some cases, intellectual deficit.
Index Terms
Tyrosinaemia type 2Hepatic tyrosine aminotransferase deficiencyTyrosine transaminase deficiencyKeratosis palmoplantaris - corneal dystrophyOculocutaneous tyrosinaemiaRichner-Hanhart syndrome