Inherited disorders of purine metabolism--underlying molecular mechanisms

An overview of inherited disorders of purine metabolism, concentrating on well established enzyme defects is given. Included are HPRT and the LNS, APRT and 2,8-dihydroxyadenine lithiasis, hyperactivity of PRPP synthetase, ADA and PNP and immunodeficiencies. Emphasis is put on underlying molecular me...

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Bibliographic Details
Published in:Klinische Wochenschrift 1984-10, Vol.62 (20), p.953-962
Main Author: Gutensohn, W
Format: Article
Language:English
Subjects:
Adenine Phosphoribosyltransferase - deficiency
Adenine Phosphoribosyltransferase - genetics
Adenosine Deaminase - deficiency
Gout - enzymology
Gout - genetics
Humans
Hypoxanthine Phosphoribosyltransferase - deficiency
Hypoxanthine Phosphoribosyltransferase - genetics
Lesch-Nyhan Syndrome - genetics
Molecular Biology
Mutation
Phosphoribosyl Pyrophosphate - metabolism
Purine-Nucleoside Phosphorylase - deficiency
Purine-Pyrimidine Metabolism, Inborn Errors - enzymology
Purine-Pyrimidine Metabolism, Inborn Errors - genetics
Purines - metabolism
Ribose-Phosphate Pyrophosphokinase - genetics
Uric Acid - blood
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Summary:An overview of inherited disorders of purine metabolism, concentrating on well established enzyme defects is given. Included are HPRT and the LNS, APRT and 2,8-dihydroxyadenine lithiasis, hyperactivity of PRPP synthetase, ADA and PNP and immunodeficiencies. Emphasis is put on underlying molecular mechanisms on the gene-, enzyme-, or metabolite level for a better understanding of the events leading from the genotype to the clinical phenotype. Finally some aspects of extracellular purine nucleotide metabolism catalyzed by cell surface-bound ectoenzymes are discussed.
ISSN:0023-2173
1432-1440
DOI:10.1007/BF01728425