TYROSINEMIA I TYPE: LITERATURE REVIEW AND DESCRIPTION OF A CLINICAL CASE
Abstract
Tyrosine is an aromatic alpha-amino acid derived from dietary protein and synthesized endogenously from phenylalanine. Tyrosinemia type I is a rare genetically determined metabolic disease that, if not diagnosed and treated promptly, leads to progressive liver damage, hypophosphatemic rickets, renal tubulopathy, and severe neurological symptoms. The cause of hypertyrosinemia is hereditary deficiencies of the enzymes involved in the breakdown of this amino acid, as a result of which the metabolism of thyroxine proceeds in an alternative way with the formation of highly toxic compounds. The frequency of tyrosinemia in different populations ranges from 1:100–200 thousand live newborns. Tyrosinemia type I occurs at different age intervals, from early neonatal period (the most aggressive form) to school age (slowly progressive disease). All patients with clinical and biochemical findings consistent with tyrosinemia. genetic testing for mutations in the FAH gene. Enzyme replacement therapy should begin immediately after a high level of succinylacetone in the blood or urine is detected, without waiting for genetic confirmation, which ensures the safety of the liver and kidneys. Treatment initiated in the first months to years of life reduces the risk of early development of hepatocellular carcinoma. Monitoring is carried out for all patients with tyrosinemia and includes the determination of the activity of liver enzymes, alpha-fetoprotein (AFP), a complete clinical blood test, an assessment of the level of amino acids in the blood and urine. Monitoring is carried out monthly during the first year of therapy, and then every 3 months. It is important to monitor the AFP levels, with an increase, conduct ultrasound and MRI of the liver to exclude hepatocarcinoma. For timely diagnosis and initiation of therapy, it is necessary to increase the level of knowledge of doctors in matters of metabolic disorders, in particular the amino acid tyrosine, in order to improve diagnosis, early appointment of pathogenetic therapy and improve the quality of life of children with tyrosinemia.
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