ENZYME DEFECT ASSOCIATED WITH A SEX-LINKED HUMAN NEUROLOGICAL DISORDER AND EXCESSIVE PURINE SYNTHESIS
ENZYME DEFECT ASSOCIATED WITH A SEX-LINKED HUMAN NEUROLOGICAL DISORDER AND EXCESSIVE PURINE SYNTHESIS
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DOI：
10.1126/science.155.3770.1682
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发表时间：
1967-01-01
期刊：
影响因子：
56.9
通讯作者：
KELLEY, WN
中科院分区：
文献类型：
--
作者：
SEEGMILLER, JE;ROSENBLOOM, FM;KELLEY, WN
性连锁家族性神经系统疾病包括脑瘫、智力低下、舞蹈手足徐动症和强迫性攻击行为，与参与嘌呤代谢的酶（即次黄嘌呤-鸟嘌呤磷酸核糖基转移酶）的缺失相关。在这种疾病中产生过量尿酸意味着该酶参与嘌呤生物合成的正常调节。这是第一个特定酶缺陷和异常强迫行为之间关系的例子。这也是第一个嘌呤代谢酶缺陷证明在神经系统疾病。
A sex-linked familial neurological disease consisting of cerebral palsy, mental retardation, choreoathetosis, and compulsive aggressive behavior is associated with a loss of an enzyme that participates in purine metabolism, namely, hypoxanthine-guanine phosphoribosyltransferase. The production of excessive uric acid in this disorder implies that the enzyme is involved in the normal regulation of purine biosynthesis. This is the first example of a relation between a specific enzyme defect and abnormal compulsive behavior. It is also the first enzyme defect in purine metabolism demonstrated in a neurological disease.