Tyrosinemia type 2
What is Tyrosinemia type 2?
A rare inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.
Other condition names
- Keratosis palmoplantaris-corneal dystrophy syndrome
- Oculocutaneous tyrosinemia
- Richner-Hanhart syndrome
- Tyrosinemia due to TAT deficiency
- Tyrosinemia due to tyrosine aminotransferase deficiency
- Tyrosinemia type II
Inheritance type
Autosomal recessive
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Infancy
- Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.