Tyrosinemia, Type II (TYR II)

Conditions

About

Tyrosinemia, type II (TYR II) is a condition that can affect the eyes, skin, and intellectual development.  People with tyrosinemia, type II are unable to break down an amino acid known as tyrosine. Tyrosinemia is a condition with multiple forms, each having different outcomes and treatments. There are three types of tyrosinemia (I, II, and III). TYR II tends to affect the skin and eyes. Signs of TYR II usually begin in the first year of life and include Increased tear production, sensitivity to light, eye redness, skin lesions on the hands and feet, behavior changes, and poor coordination. Many of these signs may occur when a baby eats foods that the body cannot break down. Early detection and proper treatment for this condition can prevent some of the severe outcomes of this condition. 

 

Condition Type:

Secondary

Frequency:

Tyrosinemia, type II (TYR II) affects less than 1 in 250,000 babies worldwide. The condition has been reported predominantly in Arab and Mediterranean regions.

More Information for Parents:
Also known as:
  • TYR II
  • Hypertyrosinemia type II
  • Keratosis palmoplantaris - corneal dystrophy
  • Oculocutaneous tyrosinemia
  • Richner-Hanhart syndrome
  • Tyrosinemia due to TAT deficiency
  • Tyrosinemia due to tyrosine aminotransferase deficiency

Core Conditions

Secondary