Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis

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Science  31 Mar 1967:
Vol. 155, Issue 3770, pp. 1682-1684
DOI: 10.1126/science.155.3770.1682


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.