A specific enzyme defect in gout associated with overproduction of uric acid.
- 1 June 1967
- journal article
- research article
- Published by Proceedings of the National Academy of Sciences in Proceedings of the National Academy of Sciences
- Vol. 57 (6) , 1735-1739
- https://doi.org/10.1073/pnas.57.6.1735
Abstract
A partial deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase was demonstrated in 5 members of 2 families having gout associated with overproduction of uric acid. The molecular alteration leading to the decreased activity of this enzyme appears to be different in each family. The mutant enzymes of the 2 families differ in their relative activity for each of the natural purine substrates as well as in their heat stability.This publication has 15 references indexed in Scilit:
- A MICROCOLORIMETRIC DETERMINATION OF CREATINE IN URINE BY THE JAFFE REACTIONPublished by Elsevier ,2021
- Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine SynthesisScience, 1967
- X-Linked Recessive Inheritance of a Syndrome of Mental Retardation With HyperuricemiaExperimental Biology and Medicine, 1966
- A familial disorder of uric acid metabolism and central nervous system functionThe American Journal of Medicine, 1964
- Biochemistry of Uric Acid and Its Relation to GoutNew England Journal of Medicine, 1963
- Renal calculi preceding gouty arthritis in a childThe American Journal of Medicine, 1962
- URIC ACID PRODUCTION IN GOUTJournal of Clinical Investigation, 1961
- The enzymatic spectrophotometric method for determination of uric acid.1959
- INCORPORATION OF GLYCINE NITROGEN INTO URIC ACID IN NORMAL AND GOUTY MAN1952
- THE METABOLISM OF URIC ACID IN THE NORMAL AND GOUTY HUMAN STUDIED WITH THE AID OF ISOTOPIC URIC ACIDJournal of Biological Chemistry, 1949