Tyrosinemia Report

TyrosinemiaTyrosinemia is a congenital metabolic disorder in which the amino acid tyrosine is not broken down properly, accumulating in the tissues. This accumulation damages organs, leading to possible respiratory, renal and hepatic failure, as well as neurological manifestations. The three genes involved are responsible, respectively, for the three types of tyrosinemia, where type 1 is the most severe form, while type 3 is the rarest form.3 genes analyzed It is recommended if: This test supports the diagnosis of congenital tyrosinemia, in subjects who present the signs and symptoms of the pathology or who have affected family members. List of main conditions: Tyrosinemia, Type I Tyrosinemia, Type II Tyrosinemia, Type III