It is feasible that the major title of the report Lesch Nyhan Syndrome is not the name you anticipated. Kindly examine the synonyms detailing to find the alternative name(s) and condition neighborhood(s) covered by this report.
- HGPRT deficiency
- HPRT shortage
- Lesch-Nyhan illness
- hypoxanthine-guanine phosphoribosyl transferase shortage
Lesch-Nyhan syndrome is an unusual inborn mistake of purine metabolic rate characterized by the absence or shortage of the task of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Purines are nitrogen-containing compounds located in several foods (e.g., body organ meats, chicken, and also vegetables). In the absence of HPRT, the purines hypoxanthine and also guanine are not constructed into nucleotides. Uric acid levels are abnormally high in individuals with Lesch-Nyhan disorder as well as sodium urate crystals may abnormally collect in the joints and also kidneys. Lesch-Nyhan disorder is acquired as an X-linked recessive congenital disease that, with rare women exceptions, most often influences males.
The symptoms of Lesch-Nyhan disorder include impaired kidney function, severe gouty joint inflammation, and self-mutilating habits such as lip and also finger attacking and/or head knocking. Added signs and symptoms include uncontrolled muscle activities, and also neurological disability.