Inherited disorders of purine and pyrimidine metabolism. State of art. Contribution for diagnosis.

Luísa Diogo, Teresa Proença, Paula Garcia, Catarina Olveira, Anne Simmonds


Inherited errors of purine and pyrimidine metabolism are a group of disorders with a broad spectrum of clinical manifestations. They may involve nervous, renal, haematological and immunological systems, presenting at any age. The incidence and prevalence of these disorders are unknown. Most clinicians are not aware of their existence and hospital laboratories do not offer conditions for the screening. We have been associated contractor in an european project for the study of these disorders. It enabled us to set up urinary screening methods and establish normal values for urinary purine and pyrimidine in our paediatric population.

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