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 ·Vol. 57 ·No. 6 ·1967-06-00 ·Pages 1735-9

Kelley WN, Rosenbloom FM, Henderson JF, Seegmiller JE

Abstract

暂无摘要

MeSH Terms

Adult Diphosphates Erythrocytes/enzymology Glucosyltransferases/metabolism Gout/metabolism Guanine Hot Temperature Humans Hypoxanthines In Vitro Techniques Leukocytes/enzymology Male Middle Aged Molecular Biology Mutation Purine-Pyrimidine Metabolism, Inborn Errors Uric Acid/biosynthesis,blood,urine

Chemicals

Diphosphates Hypoxanthines Uric Acid Guanine Glucosyltransferases

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Kelley W N

Rosenbloom F M

Henderson J F

Seegmiller J E

References (12)

12 references, click to expand

Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.
Science. 1967 Mar 31;155(3770):1682-4 PMID: 6020292
X-linked recessive inheritance of a syndrome of mental retardation with hyperuricemia.
Proc Soc Exp Biol Med. 1966 Jun;122(2):609-11 PMID: 5980574
Incorporation of glycine nitrogen into uric acid in normal and gouty man.
Metabolism. 1952 Jan;1(1):3-12 PMID: 14890550
A microcolorimetric determination of creatine in urine by the Jaffe reaction.
J Biol Chem. 1954 Jun;208(2):853-61 PMID: 13174594
Uric acid production in gout.
J Clin Invest. 1961 Jul;40:1304-14 PMID: 13749616
Renal calculi preceding gouty arthritis in a child.
Am J Med. 1962 May;32:805-10 PMID: 13884747
Biochemistry of uric acid and its relation to gout.
N Engl J Med. 1963 Apr 4;268:764-73 contd PMID: 13987631
A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.
Am J Med. 1964 Apr;36:561-70 PMID: 14142409
The metabolism of uric acid in the normal and gouty human studied with the aid of isotopic uric acid.
J Biol Chem. 1949 Nov;181(1):183-93 PMID: 15390405
The enzymatic spectrophotometric method for determination of uric acid.
J Lab Clin Med. 1959 Dec;54:903-13 PMID: 14416793
HEREDITARY CHOREOATHETOSIS, SELF-MUTILATION AND HYPERURICEMIA IN YOUNG MALES.
N Engl J Med. 1965 Jul 15;273:130-5 PMID: 14303658
Suppression of uric acid synthesis in the gouty human by the use of 6-diazo-5-oxo-L-norleucine.
J Clin Invest. 1960 Mar;39:447-54 PMID: 13829149

Article Info

Journal

Proceedings of the National Academy of Sciences of the United States of America

Abbr.

Proc Natl Acad Sci U S A

ISSN

0027-8424

DOI

10.1073/pnas.57.6.1735

Published

1967-06-00

Pages

1735-9

Language

English

Region

United States

NLM ID

7505876

PMCID

PMC224540

Subset

External Links

PubMed source DOI: 10.1073/pnas.57.6.1735 PMC Full Text View journal details

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A specific enzyme defect in gout associated with overproduction of uric acid.

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