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Disorders of purine and pyrimidine metabolism 

Disorders of purine and pyrimidine metabolism

Chapter:
Disorders of purine and pyrimidine metabolism
Author(s):

Richard W.E. Watts

DOI:
10.1093/med/9780199204854.003.1204

November 28, 2013: This chapter has been re-evaluated and remains up-to-date. No changes have been necessary.

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date: 23 August 2017

These disorders are due to abnormalities in the biosynthesis, interconversion and degradation of the purines—adenine and guanine—and of the pyrimidines—cytosine, thymine and uracil. All are heterocyclic bases which exist in tri-, di-, and mono-phosphorylated forms, and as either deoxyribosylated or ribosylated derivatives (deoxyribose and ribose are pentose carbohydrates). The phosphorylated deoxyribosylated and ribosylated derivatives are termed ‘nucleotides’, and the purely ribosylated derivatives, which lack the phosphate group, are ‘nucleosides’....

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