Hereditary metabolic diseases of newborns-tyrosinemia

Abstract

Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine that lead to the predominant lesion of the central nervous system, liver, kidneys, vision, skin and mental retardation,depending on the type of illness. In the absens of treatment, the disease leads to death. This article presents the clinical picture, diaqnostic methods, treatment and clinical case of newborn patient with tyrosinemia.