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Harrison's Principles of Internal Medicine, 18e
| Part 16. Endocrinology and Metabolism > Section 3. Disorders of Intermediary Metabolism > |
Chapter 359. Disorders of Purine and Pyrimidine Metabolism
Sections: Disorders of Purine and Pyrimidine Metabolism: Introduction, Uric Acid Metabolism, Hyperuricemia, Hypouricemia, Selected Inborn Errors of Purine Metabolism, Purine Disorders, Pyrimidine Disorders, Further Readings.
Topics Discussed: purine-pyrimidine metabolism, inborn errors.
Excerpt:"Purines (adenine and guanine) and pyrimidines (cytosine, thymine, uracil) serve fundamental roles in the replication of genetic material, gene transcription, protein synthesis, and cellular metabolism. Disorders that involve abnormalities of nucleotide metabolism range from relatively common diseases such as hyperuricemia and gout, in which there is increased production or impaired excretion of a metabolic end product of purine metabolism (uric acid), to rare enzyme deficiencies that affect purine and pyrimidine synthesis or degradation. Understanding these biochemical pathways has led, in some instances, to the development of specific forms of treatment, such as the use of allopurinol, to reduce uric acid production...."
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