FAH : fumarylacetoacetate hydrolase

Description

The human gene known as fumarylacetoacetate hydrolase (FAH) encodes an enzyme of the same name. Abundant in the liver and kidneys, this enzyme also has a presence in various tissues throughout the body, albeit at lower levels. It is the final enzyme in a chain of five responsible for metabolizing tyrosine, an essential amino acid. Crucially, fumarylacetoacetate hydrolase catalyzes the conversion of fumarylacetoacetate (FAA), a tyrosine byproduct, into smaller molecules. These may either be excreted via the kidneys or utilized as energy sources or as building blocks in the body.

Associated Diseases

Mutations in the FAH gene can lead to a rare autosomal recessive disorder known as tyrosinemia type I. This disorder causes a buildup of FAA and other toxic metabolites, leading to liver damage, kidney failure, and intellectual disability. If untreated in early infancy, tyrosinemia type I can be fatal.

Did you Know ?

Tyrosinemia type I affects approximately 1 in 100,000 newborns worldwide. While rare, early diagnosis and treatment through dietary modifications and medication can significantly improve outcomes.