Abstract
Genetic metabolic purine and pyrimidine disorders were first reported in children as the cause of kidney stones and intractable anaemia in 1954 and 1959 respectively [1]. A genetic basis for gout presenting in childhood with severe neurological deficits (Lesch-Nyhan syndrome) was recognised in 1967. The number of enzyme defects now totals 27, but some of these are relatively benign, with no currently apparent clinical sequelae. Only those with defined clinical consequences are described in this text. Any system can be affected - immunological, haematological, neurological, musculoskeletal and, because of the extreme insolubility of purine bases, renal as well. The broad spectrum of presentation underlines the importance of these ‘housekeeping’ enzymes for providing the vital building blocks for DNA, RNA and ATP, as well as the pyrimidine sugars essential to phospho- and glyco-lipid synthesis (Figs. 1 and 2).
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References
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Simmonds, H.A., Van Gennip, A.H. (2003). Purine and Pyrimidine Disorders. In: Blau, N., Duran, M., Blaskovics, M.E., Gibson, K.M. (eds) Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-55878-8_29
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DOI: https://doi.org/10.1007/978-3-642-55878-8_29
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