PMID: 6020292Mar 31, 1967Paper

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

Science
J E SeegmillerW N Kelley

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.

References

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Citations

Sep 1, 1970·Arthritis and Rheumatism
Nov 1, 1970·Arthritis and Rheumatism·L B SorensenL Coben
Nov 1, 1975·Arthritis and Rheumatism·W N KelleyM B Van der Weyden
Nov 1, 1975·Arthritis and Rheumatism·J E Seegmiller
Nov 1, 1975·Arthritis and Rheumatism·C J Smyth
Nov 1, 1975·Arthritis and Rheumatism·J E Seegmiller
Apr 1, 1995·Prenatal Diagnosis·R L AlfordC T Caskey
Jun 1, 1988·Cell Biology and Toxicology·M S TurkerG M Martin
Jan 1, 1992·Rheumatology International·M MituszovaV Stenszky
Apr 24, 1974·Humangenetik·H van SomerenP Meera Khan
Jan 1, 1983·Molecular & General Genetics : MGG·R A WoodsD Filpula
Mar 1, 1973·Birth Defects Original Article Series·W L Nyhan
Jun 1, 1980·Biochemical Genetics·M R Castro CostaX O Breakefield
Feb 1, 1973·Biochemical Genetics·K ItiabaJ C Crawhall
Jul 1, 1989·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·J Laufer, H Boichis
Jan 1, 1976·Child Psychiatry and Human Development·R D CiaranelloH M Cann
Mar 1, 1979·Journal of Autism and Developmental Disorders·S CastellsW L Nyhan

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