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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Tyrosinemia type 2?
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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).
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