Purine Metabolism in Man pp 215-220 | Cite as
Resistance of Erythrocyte Adenine Phosphoribosyltransferase in the Lesch-Nyhan Syndrome to Destabilization to Heat by Hypoxanthine
Abstract
The Lesch-Nyhan Syndrome (LNS) is a rare x-linked neurological disease of children characterized by choreoathetosis, spasticity, mental retardation and compulsive self mutilation accompanied by excessive purine production and hyperuricemia (1). The virtually complete deficiency of activity of a purine salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGPRT) (EC 2.4.2.8.) (2), due to structural gene mutation (3,4) has been shown to be the basic abnormality in this disease. In erythrocytes of LNS patients, HGPRT deficiency has been found to be associated with increased activity and relative thermal stability of adenine phosphoribosyltransferase (APRT) (EC 2.4.2.7.) (5,6) an autosomally determined enzyme (7).
Keywords
Thermal Inactivation Adenine Phosphoribosyltransferase Basic Abnormality Relative Thermal Stability HGPRT ActivityPreview
Unable to display preview. Download preview PDF.
References
- Lesch M. and Nyhan WL. Am.J.Med. 36: 561, 1964.CrossRefGoogle Scholar
- Seegmiller JE. Rosenbloom FM and Kelley WN. Science 155: 682, 1967.Google Scholar
- Fujimoto WY and Seegmiller JE. Proc.Nat.Acad.Sci. 65: 577, 1970.CrossRefGoogle Scholar
- 4.Kelley WN and Meade JC. J.Biol.Chem. 246: 2953, 1971.PubMedGoogle Scholar
- 5.Kelley WN. Greene ML. Rosenbloom FM. Henderson JF and Seegmiller JE. Ann.Intern.Med. Z: 155, 1969.Google Scholar
- 6.Kelley WN. Fed.Proc. 27: 1047, 1968.PubMedGoogle Scholar
- 7.Henderson JF. Kelley WN. Rosenbloom FM and Seegmiller JE. The Amer.J.Human Genetics. 21: 61, 1969.Google Scholar
- 8.Schmidt R. Mundel G. and Sperling O. Harefuah 82: 410, 1972.PubMedGoogle Scholar
- 9.Sperling O. Frank M. Ophir R. Liberman UA. Adam A. and De-Vries A. Europ.J.Clin.Biol.Res.15: 942, 1970.Google Scholar
- 10.Rubin CS. and Balis ME. Biochem.Biophys.Acta au: 163, 1972.Google Scholar
- 11.Rubin CS. Balis ME. Piomelli S. Berman PH and Dancis J.J.Lab.Clin.Med. 1: 732, 1969.Google Scholar
- 12.Greene ML. Bayles JR and Seegmiller JE. Science 12: 887, 1970.CrossRefGoogle Scholar