ICD·index Chapters ENESDE
5C50.12 category

Tyrosinaemia type 2

Definition

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.

Also indexed as

Hepatic tyrosine aminotransferase deficiencyKeratosis palmoplantaris - corneal dystrophyOculocutaneous tyrosinaemiaRichner-Hanhart syndromeTyrosinaemia type 2Tyrosine transaminase deficiency

Nearby in Disorders of tyrosine metabolism