Tyrosinemia type II synonyms
What other names are the Tyrosinemia type II known by? Synonyms and other terms with which Tyrosinemia type II is known.
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 inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to be affected.
Symptoms:
Individuals with tyrosinemia type II may experience a range of symptoms that primarily affect the eyes and skin. These symptoms can vary in severity and may include:
- Keratitis: Inflammation of the cornea, leading to eye pain, redness, and sensitivity to light.
- Photophobia: Extreme sensitivity to light, causing discomfort and avoidance of bright environments.
- Blistering skin lesions: Painful blisters that may appear on the palms, soles, and other areas of the body.
- Hyperkeratosis: Thickening of the skin, particularly on the palms and soles, resulting in a rough and scaly texture.
- Corneal ulcers: Open sores on the cornea that can lead to vision impairment if left untreated.
Treatment:
Currently, there is no cure for tyrosinemia type II. However, management of the condition focuses on reducing symptoms and preventing complications. This typically involves:
- Dietary restrictions: A low-tyrosine diet, which may involve avoiding certain protein-rich foods, can help minimize the buildup of toxic byproducts.
- Topical treatments: Medications and ointments may be prescribed to alleviate skin symptoms and promote healing of skin lesions.
- Regular eye examinations: Ophthalmologists should monitor and treat any eye-related complications to preserve vision.
Prognosis:
The long-term outlook for individuals with tyrosinemia type II varies depending on the severity of symptoms and the effectiveness of management strategies. With proper treatment and adherence to dietary restrictions, many individuals can lead relatively normal lives. However, without appropriate care, severe eye complications and skin lesions can significantly impact quality of life.
