What is the prevalence of Tyrosinemia Type I?
How many people does Tyrosinemia Type I affect? Does it have the same prevalence in men and women? And in the different countries?
Tyrosinemia Type I is a rare genetic disorder characterized by the deficiency of an enzyme called fumarylacetoacetate hydrolase (FAH). It leads to the accumulation of toxic substances in the body, particularly in the liver and kidneys. This condition affects approximately 1 in every 100,000 to 120,000 individuals worldwide. Tyrosinemia Type I is more prevalent in certain populations, such as individuals of French-Canadian, Scandinavian, and Irish descent. Early diagnosis and treatment are crucial to prevent severe complications and improve outcomes for affected individuals.
Tyrosinemia Type I is a rare genetic disorder characterized by the deficiency of the enzyme fumarylacetoacetate hydrolase (FAH), which is essential for the breakdown of the amino acid tyrosine. This leads to the accumulation of toxic byproducts in the body, causing severe liver and kidney damage if left untreated.
The prevalence of Tyrosinemia Type I varies among different populations. It is estimated to affect approximately 1 in 100,000 to 120,000 individuals worldwide. However, the prevalence may be higher in certain regions or communities where consanguineous marriages are more common.
Due to its rarity, Tyrosinemia Type I is considered an orphan disease. It is typically diagnosed in infancy or early childhood, as affected infants may exhibit failure to thrive, liver dysfunction, and other symptoms. Early detection and prompt treatment are crucial to prevent life-threatening complications.
Treatment for Tyrosinemia Type I involves a strict low-protein diet, medication, and in severe cases, liver transplantation. With appropriate management, individuals with Tyrosinemia Type I can lead relatively normal lives, although long-term monitoring and adherence to dietary restrictions are necessary.
