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Genetic defects of purine and pyrimidine metabolism represent a group of relatively new disorders. Xanthinuria, the first genetic metabolic purine disorder, was described in children as the cause of renal stones in 1954, and a genetic basis for the Lesch-Nyhan syndrome accompanied by gout in childhood and adolescence with serious neurological impairment was recognised in 1967. The number of enzyme defects identified since then has increased rapidly and now totals 27. Not surprisingly, knowledge at the clinical level has been unable to keep the pace, a problem compounded by the broad spectrum of presentation and genetic heterogeneity. Clinical presentations may involve renal, musculoskeletal, neurological, immunological and haematological systems. Although these disorders are generally paediatric problems, some disorders can manifest themselves in patients at any age from birth to advanced adulthood. Adding to this complexity is the rapidly expanding group of defects in mitochondrial purine or pyrimidine metabolism. Their recent description means that awareness is limited and affected patients are frequently misdiagnosed or remain undiagnosed, particularly in adults where such defects are increasingly being recognised as the basis of serious illness. Although some conditions are relatively benign, others can have serious consequences. Currently, there appear to be few laboratories worldwide providing the necessary comprehensive diagnostic services for detailed purine and pyrimidine investigations. Recent advances increasingly implicate these defects in adults as well as children. Consequently, effort is required to alert physicians to the broad spectrum of clinical presentation. The proper indications and detection of new cases not only will help a number of unfortunate patients but will almost certainly lead to the illumination of the still unknown pathogenesis of these disorders.

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Bierau, J., Šebesta, I. (2014). Purine and Pyrimidine Disorders. In: Blau, N., Duran, M., Gibson, K., Dionisi Vici, C. (eds) Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Springer, Berlin, Heidelberg.

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