Tyrosinemia Type B Liver And Kidney Have A 5-Year-Old Child

Abstract

Hereditary tyrosinemia is a rare genetic disease, the diagnosis of which is difficult. The clinical case of a 5-year-old child with hereditary tyrosinemia presented, with the mutation p.Gln 64 His in the FAH gene in the homozygous state. Clinical manifestations of the disease proceeded with cirrhosis and portal hypertension, kidney pathology and deformation of the bones.