Tyrosinemia type 2
ORPHA:28378· ICD-10 E70.2
Definition
A rare inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal