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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