Genetic diseases of metabolic disorders: market-you want to call syndrome (literature review)

Abstract

Among the genetic diseases of inborn errors of metabolism, Lesch-Nyhan syndrome is a relatively unique disease due to the small number of types of nucleic acid metabolism disorders. This disease was first described in 1964. Its genetic pattern is passed on in a recessive manner. The diseased gene is attached to the X chromosome, so the vast majority of affected individuals are boys. It has been clarified that the metabolic defect of this disease is hypoxanthine, an enzyme of purine metabolism in children