Tyrosinemia type 2

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Tyrosinemia type 2

Synonyms: Keratosis palmoplantaris-corneal dystrophy syndrome | Oculocutaneous tyrosinemia | Richner-Hanhart syndrome | Tyrosinemia due to TAT deficiency | Tyrosinemia due to tyrosine aminotransferase deficiency | Tyrosinemia type II

Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and in some cases intellectual deficit.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Tyrosinemia type 2?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.