METABOLIC DISORDERS: LESCH-NYHAN SYNDROME

Esha Rami; Nishchay Bhatt; Nisha Wadhwani; Anushka Sharma

Esha Rami Department of Biotechnology, Parul Institute of Applied Sciences, Parul University, P.O. Limda, Waghodia, Vadodara, Gujarat, India
Nishchay Bhatt Department of Biochemistry, Parul Institute of Applied Sciences, Parul University, P.O. Limda, Waghodia, Vadodara, Gujarat, India
Nisha Wadhwani Department of Biotechnology, Parul Institute of Applied Sciences, Parul University, P.O. Limda, Waghodia, Vadodara, Gujarat, India
Anushka Sharma Department of Biotechnology, Parul Institute of Applied Sciences, Parul University, P.O. Limda, Waghodia, Vadodara, Gujarat, India

Keywords: Lesch-Nyhan syndrome, Neurological, Uric acid

Abstract

Lesch-Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. According to one estimate, the disorder occurs at a rate of approximately 1 in 400,000 births in the world. It occurs almost exclusively in males due to being an X-linked recessive disorder. Excess uric acid production and Neurological disorders with characteristic self-mutilating behaviors are major symptoms of LNS. LNS is a rare inborn error of purine metabolism characterized by the absence or deficiency of the activity of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), Mutations in the HPRT1 gene cause LNS. Treatment for LNS is symptomatic, Gout treated with allopurinol; Kidney stones with lithotripsy; No standard treatment for the neurological symptoms of LNS.