The DOI matches its Crossref record.
Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis
Abstract
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.
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Citations
Cited by
On the nature of hereditable variation in cultured somatic cells
Siminovitch, L. (1976) · Cell · doi:10.1016/0092-8674(76)90249-x · Cited by 485
Hyperuricemia and Gout: Classification, Complications and Management
Boss, G. R., & Seegmiller, J. E. (1979) · New England Journal of Medicine · doi:10.1056/nejm197906283002604 · Cited by 281
Self-citationThe neurobiologie consequences of down syndrome
Coyle, J. T., Oster-Granite, M. L., & Gearhart, J. D. (1986) · Brain Research Bulletin · doi:10.1016/0361-9230(86)90074-2 · Cited by 248
Formate metabolism in health and disease
Pietzke, M., Meiser, J., & Vazquez, A. (2020) · Molecular Metabolism · doi:10.1016/j.molmet.2019.05.012 · Cited by 218
Genetic basis for a mouse model of down syndrome.
Reeves, R. H., Gearhart, J. D., & Littlefield, J. W. (1986) · Brain Research Bulletin · doi:10.1016/0361-9230(86)90076-6 · Cited by 93
Metadata
- Authors
- Seegmiller, J. E., Rosenbloom, F. M., & Kelley, W. N.
- Venue
- Science
- Published
- 1967-03-31
- Volume
- 155
- Issue
- 3770
- Pages
- 1682-1684
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2120613619
- Cited by
- 1,220
- References
- 0
- FWCI
- 34.45
- Type
- journal article
- Language
- en
- Open access
- closed
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- Seegmiller, J. E., Rosenbloom, F. M., & Kelley, W. N. (1967). Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis. Science. https://doi.org/10.1126/science.155.3770.1682
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
