What is Tyrosinemia type II

Tyrosinemia type II, also known as oculocutaneous tyrosinemia or Richner-Hanhart syndrome, is a rare genetic disorder that affects the body's ability to break down the amino acid tyrosine. This condition is caused by a deficiency of the enzyme tyrosine aminotransferase (TAT), which is responsible for converting tyrosine into other compounds.

Individuals with tyrosinemia type II may experience various symptoms, including eye problems such as corneal ulcers, redness, and sensitivity to light. Skin abnormalities like painful blisters, thickened skin, and excessive sweating are also common. Additionally, some affected individuals may have intellectual disabilities or developmental delays.

Diagnosis of tyrosinemia type II is typically confirmed through genetic testing or by measuring the levels of tyrosine and its byproducts in the blood and urine. Treatment involves managing symptoms and maintaining a low-tyrosine diet, which restricts the intake of certain protein-rich foods.

Early detection and intervention are crucial in managing the condition and preventing complications. Regular monitoring by healthcare professionals, including ophthalmologists and dermatologists, is essential to ensure optimal care and quality of life for individuals with tyrosinemia type II.