5C50.12Ангилал

Tyrosinaemia type 2

Тодорхойлолт

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.

Индексийн нэр томьёо Index terms · 6

Tyrosinaemia type 2Hepatic tyrosine aminotransferase deficiencyTyrosine transaminase deficiencyKeratosis palmoplantaris - corneal dystrophyOculocutaneous tyrosinaemiaRichner-Hanhart syndrome

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