Short answer · Medically reviewed summary · Last updated: 2023-07-13
Tyrosinemia type II, also known as oculocutaneous tyrosinemia or Richner-Hanhart syndrome, is a rare autosomal recessive disorder that affects the metabolism of the amino acid tyrosine. It is caused by a deficiency of the enzyme tyrosine aminotransferase (TAT), which leads to the accumulation of tyrosine and its byproducts in the body. The prevalence of Tyrosinemia type II is quite low, making it a rare condition.
What is the prevalence of Tyrosinemia type II?
Prevalence of Tyrosinemia type II: how many people are affected worldwide, differences by sex and region, with sources.
Tyrosinemia type II, also known as oculocutaneous tyrosinemia or Richner-Hanhart syndrome, is a rare autosomal recessive disorder that affects the metabolism of the amino acid tyrosine. It is caused by a deficiency of the enzyme tyrosine aminotransferase (TAT), which leads to the accumulation of tyrosine and its byproducts in the body.
The prevalence of Tyrosinemia type II is quite low, making it a rare condition. Exact prevalence rates are challenging to determine due to its rarity and the lack of comprehensive population studies. However, it is estimated to affect approximately 1 in every 100,000 to 1 in every 250,000 individuals worldwide.
The disorder primarily manifests in infancy or early childhood and is characterized by various symptoms, including eye abnormalities (such as corneal ulcers and keratitis), skin lesions, intellectual disability, and developmental delays. Prompt diagnosis and treatment are crucial to prevent long-term complications.
While Tyrosinemia type II is a relatively uncommon condition, it is essential for healthcare professionals to be aware of its signs and symptoms to facilitate early detection and intervention. Genetic counseling and testing can help identify individuals at risk and provide appropriate management strategies.
