5C50.12 Tyrosinaemia type 2

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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.

synonyms

• Tyrosinaemia type 2
• Hepatic tyrosine aminotransferase deficiency
• Tyrosine transaminase deficiency
• Keratosis palmoplantaris - corneal dystrophy
• Oculocutaneous tyrosinaemia
• Richner-Hanhart syndrome

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