ترجمه مقاله نقش ضروری ارتباطات 6G با چشم انداز صنعت 4.0
- مبلغ: ۸۶,۰۰۰ تومان
ترجمه مقاله پایداری توسعه شهری، تعدیل ساختار صنعتی و کارایی کاربری زمین
- مبلغ: ۹۱,۰۰۰ تومان
Lesch–Nyhan syndrome is a hereditary disorder that affects the way in which the body handles the production and decomposition of purines, one of the chemical agents that shape RNA and DNA molecules. Although the disorder had been observed previously, it was not until 1964 that Lesch and Nyhan first described the complete syndrome in two brothers.1 This syndrome is characterized by an increase of uric acid levels in urine and blood and hypoxanthine-guanine phosphoribosyltransferase (HPRT) production deficiency.2 This X-linked disorder, which has an incidence of 1/100,000 – 380,000, primarily affects males, whereas females are carriers. Despite this, some cases have been reported in woman.3,4 There is no variation by race.3 Physical examination may show hyperreflexia, spasticity, choreoathetoid movements, compulsive self-destructive behavior, increased serum uric acid, increased excretion of uric acid in urine and decreased levels of HGP in cultured fibroblasts. The syndrome is sometimes not diagnosed until self-harm has begun at an age of one and a half or two years.2 Recurrent infections and renal failure are the most common causes of death, with life expectancy limited to the second or third decade of life