Tyrosinemia: An Inherited Metabolic Disorder

Other Name: FAH deficiency; Fumarylacetoacetase deficiency; Hepatorenal tyrosinemia or tyrosinosis; Hereditary tyrosinemia type 1, Tyrosinemia type 1. What is Tyrosinosis: Tyrosinosis is an extremely rare, possibly heritable disorder of tyrosine metabolism that potentially caused by the defective formation of p-hydroxyphenylpyruvic acid oxidase or of tyrosine transaminase; characterized by the enhanced urinary excretion of p-hydroxyphenylpyruvic acid […]