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 that the body needs.
Symptoms: Individuals with tyrosinemia type II typically present with a range of symptoms that primarily affect the eyes and skin. These symptoms may include painful, red eyes with increased sensitivity to light, thickened and peeling skin on the palms and soles, and the development of small, painful nodules on the surface of the cornea. In some cases, individuals may also experience intellectual disability or developmental delays.
Prognosis: The prognosis for individuals with tyrosinemia type II can vary depending on the severity of the condition and the age at which it is diagnosed. Early detection and treatment are crucial in managing the symptoms and preventing complications. With appropriate management, including a low-tyrosine diet and the use of medications to control symptoms, individuals with tyrosinemia type II can lead relatively normal lives.
Treatment: The primary treatment for tyrosinemia type II involves following a strict low-tyrosine diet. This diet restricts the intake of foods that are high in tyrosine, such as certain meats, dairy products, and some fruits and vegetables. Additionally, individuals may be prescribed medications to help manage symptoms, such as eye drops to reduce eye inflammation or pain relievers for skin discomfort.
Regular monitoring: It is important for individuals with tyrosinemia type II to receive regular medical monitoring to assess their condition and ensure that treatment is effective. This may involve regular eye examinations, blood tests to monitor tyrosine levels, and developmental assessments for children. With proper management and ongoing care, individuals with tyrosinemia type II can have an improved quality of life and minimize the impact of the condition on their overall health.