Phosphoribosyl transferase activity in normal subjects, gout patients, and children with mental retardation.
نویسندگان
چکیده
Activity of hypoxanthine-guanine and adenine phosphoribosyl transferase enzymes has been assayed in erythrocytes from 10 normal adults, 37 subjects with gout, and 21 mentally retarded children with high and normal urinary uric acid:creatinine ratios. These were compared with one case of known HGPRTase deficiency. Apart from the last subject, no cases of HGPRTase deficiency were found.
منابع مشابه
Partial HPRT deficiency (Kelley-Seegmiller syndrome).
Hypoxanthine-guanine phosphoribosyl transferase (HPRT) deficiency is an X-linked defect of purine metabolism. Clinical manifestations are usually related to the degree of enzyme deficiency; complete HPRT deficiency (Lesh-Nyhan Syndrome) presenting with severe neurological or renal symptoms, or partial HPRT deficiency (Kelley-Seegmiller syndrome) manifesting as a gout-urolithiasis syndrome. We r...
متن کاملSynthesis and concentration of 5-phosphoribosyl-1-pyrophosphate in erythrocytes from patients with Down's syndrome.
Plasma urate levels and erythrocyte glucose-6-phosphate dehydrogenase activity were not significantly different in patients with Down's syndrome when compared with control subjects with mental retardation. No significant difference was found in 5-phosphoribosyl-1-pyrophosphate (PRPP) concentration and synthesis of PRPP in erythrocytes from glucose between subjects with Down's syndrome and contr...
متن کاملرابطه بین هوشبهر با تعادل پویا در دانش آموزان پسر با کم توانی ذهنی
Mental retardation is one of the most common mental disabilities that are allocated about 3% of the world's population. The purpose of this study was to examine the relationship between IQ with dynamic and static balance in mental retardation children. Our subjects included 31 male mentally retarded students in two groups (CTL, 14 patients with a mean age of 11/07±3/02years, height 152&...
متن کاملHypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy.
A month old infant had gout and renal failure caused by hypoxanthine guanine phosphoribosyl transferase (HGPRTase) deficiency. Investigations showed a high uric acid value, crystal nephropathy on ultrasound, and uric acid deposition on renal biopsy. The HGPRTase value was low in red cells and fibroblasts.
متن کاملThe effect of external attentional focus instructions with different distances on balance and muscular activity amongst children with mental retardation
Objective: The aim of this study was survey effect of distal and proximal external attentional focus instruction on postural sways and muscular electrical activity amongst children with mental retardation. Method: For this purpose, 30 child 10- 12 years old (M= 11.2) was selected from exceptional children schools and divided to three 10 persons groups (distal external attentional focus, proxima...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 34 1 شماره
صفحات -
تاریخ انتشار 1971