FTCD : formimidoyltransferase cyclodeaminase
Description
The FTCD gene, encodes for the enzyme fumarylacetoacetate hydrolase (FAH). FAH plays a crucial role in the final step of tyrosine catabolism, converting fumarylacetoacetate to fumarate and acetoacetate. Mutations in the FTCD gene can lead to a deficiency in FAH activity, resulting in the accumulation of toxic byproducts in the body. This accumulation can lead to a rare genetic disorder known as hereditary tyrosinemia type 1 (HT1), characterized by severe liver damage, kidney failure, and neurological complications.
Associated Diseases
Did you know?
Early diagnosis and treatment with a specific diet and medications can significantly improve the prognosis of individuals with HT1.
