TY - CHAP M1 - Book, Section TI - Disorders of Purine and Pyrimidine Metabolism A1 - Mecchella, John N. A1 - Burns, Christopher M. A2 - Jameson, J. Larry A2 - Fauci, Anthony S. A2 - Kasper, Dennis L. A2 - Hauser, Stephen L. A2 - Longo, Dan L. A2 - Loscalzo, Joseph Y1 - 2018 N1 - T2 - Harrison's Principles of Internal Medicine, 20e AB - 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 and febuxostat to reduce uric acid production. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/04/20 UR - accessmedicine.mhmedical.com/content.aspx?aid=1156564320 ER -