FAMILIAL DISORDER OF URIC ACID METABOLISM + CENTRAL NERVOUS SYSTEM FUNCTION
FAMILIAL DISORDER OF URIC ACID METABOLISM + CENTRAL NERVOUS SYSTEM FUNCTION
复制标题
DOI：
10.1016/0002-9343(64)90104-4
复制
发表时间：
1964-01-01
影响因子：
5.9
通讯作者：
NYHAN, WL
中科院分区：
文献类型：
--
作者：
LESCH, M;NYHAN, WL
一个综合征包括高尿酸血症，智力迟钝，舞蹈症和自毁性咬伤已经描述了两个兄弟5岁和8岁。发现这些患者的尿酸池与痛风成人受试者的尿酸池大小相似；他们的离职率比以往任何报道都要高。尿中尿酸的日排泄量明显高于对照患者，与痛风成年“高排泄者”的正常值相近。这些患者中由甘氨酸生成的尿酸是对照组的200倍。这些数据表明，所描述的患者代表了一种独特的临床和代谢综合征。
A syndrome consisting of hyper-uricemia, mental retardation, choreoathetosis and self-destructive biting has been described in two brothers aged five and eight years. The uric acid pools in these patients were found to be similar in size to those reported for gouty adult subjects; their rates of turnover were greater than any previously reported. The daily excretion of uric acid in the urine was considerably higher than those of control patients and approximated total values found in gouty adult "hyperexcretors". The formation of uric acid from glycine in these patients exceeded that of control patients by 200 times. These data suggest that the patients described represent a distinct clinical and metabolic syndrome.