Наследственная тирозинемия i типа

Type I tyrosinemia is a rare congenital disease determined as a disturbance in the tyrosine exchange caused by a genetically predisposed deficit of fumarylacetoacetate hydrolase. This disease is known to proceed very severely. More than half of the children does not live to be one year of age. The earlier stage of the disease intensifies at the age of 6 months and up, and is characterised by subacute course. Symptoms of liver and kidney lesions, as well as psychomotor retardation prevail in the clinical picture of the disease. Four cases of this disease have been confirmed in Russia. The paper describes one case of type I tyrosinemia with early clinical symptoms diagnosed in the Republic of Sakha Yakutia after an integrated examination and molecular genetic testing.