HEREDITARY TYROSINEMIA TYPE 1
Tyrosinemia type 1 is induced by a genetic disturbance in the tyrosine exchange caused by the deficit of fumarylacetoacetate hydrolase. It is characterized by liver and kidney damage as well as nervous system involvement and manifests itself as rickets. The blood count shows elevated tyrosine, methionine and phenylalanine levels, in the urine there is an increase in succinylacetate level. Molecular genetic testing confirms the FAH gene mutations. The disease is known to proceed very severely, more than half of the children does not live to be one year of age. Symptoms of liver and renal tubule lesions as well as psychomotor retardation prevail in the clinical picture of the disease. The overwhelming majority of patients suffer from liver cirrhosis, severe hepatic impairment, lower limb malformation and other signs of hypophosphatemic rickets-like disease. The treatment involves low-protein dieting and nitisinone administration. During pregnancy, the prenatal diagnosis is possible. Four cases of hereditary tyrosinemia type 1 have been confirmed in Russian Federation. In the Republic of Sakha (Yakutia), one case of a child has been reported in 2012 [1-4].