ROSENBLOOM, F. M.
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Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.Science, 155, 1682-84, 1967.Jay Seegmiller and his colleagues at NIH discovered that the rare genetic disease, Lesch–Nyhan syndrome, was due to a profound deficiency of an enzyme known as hypoxanthine guanine phosphoribosyltransferase, or HGPRT. They reported this as "the first example of a relation between a specific enzyme defect and abnormal compulsive behavior and simultaneously as the 1st enzyme defect in purine metabolism demonstrated in a neurological disease." Subjects: ENDOCRINOLOGY, PEDIATRICS |