In: Biology
Explain the biochemical defect that leads to Lesch-Nyhan syndrome and suggest how the defect might cause the behavioral symptoms characteristic of the disorder.
Ans.Lesch-Nyhan syndrome is an inborn error of purine metabolism.It occur due to absence or deficiency of the activity of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency occurs due to mutations in the HPRT1 gene located on the X chromosome. HGPRT is an important enzyme of purine metabolism and because of its deficiency level of uric acid increases in blood and urine.
Behavioral symptoms-