- Lesch-Nyhan syndrome
Partial hypoxanthine guanine phosphoribosyltransferase 1 deficiency (partial HGPRT deficiency) leading to hyperuricaemia, without CNS effects such as those seen in Lesch-Nyhan syndrome. Patients typically develop gouty arthritis in the second or third decade of life and have a high incidence of uric acid nephrolithiasis. Inheritance is X-linked recessive.
- W. N. Kelley, F. M. Rosenbloom, J. F. Henderson, J. E. Seegmiller:
A specific enzyme defect in gout associated with overproduction of uric acid.
Proceedings of the National Academy of Sciences of the United States of America, 1967, 57: 1735-1739,
- William J. Arnold and William N. Kelley:
Dietary-Induced Variation of Hypoxanthine-Guanine Phosphoribosyl Transferase Activity in Patients with the Lesch-Nyhan Syndrome.
The Journal of Clinical Investigation, April 1973 April; 52(4): 970–973.
- J. E. Seegmiller:
Contributions of Lesch-Nyhan syndrome to the understanding of purine metabolism.
Journal of Inherited Metabolic Disease, Dordrecht, 1989, 12: 184-196.
- J. E. Seegmiller, F. M. Rosenbloom, W. N. Kelley:
Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.
Science, Washington, D.C., March 31, 1967, 155 (770): 1682-1984