Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.

@article{Seegmiller1967EnzymeDA,
  title={Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.},
  author={J. Edwin Seegmiller and F M Rosenbloom and William Kelley},
  journal={Science},
  year={1967},
  volume={155 3770},
  pages={1682-4}
}
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… CONTINUE READING

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