title: [Inherited disorders of purine and pyrimidine metabolism. State of art. Contribution for diagnosis].
abstract: 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.
authors.affiliation: Unidade de Doenças Metabólicas, Hospital Pediátrico de Coimbra.
authors.forename: Luísa
authors.initials: L
authors.lastname: Diogo
authors.forename: Teresa
authors.initials: T
authors.lastname: Proença
authors.forename: Paula
authors.initials: P
authors.lastname: Garcia
authors.forename: Catarina
authors.initials: C
authors.lastname: Olveira
authors.forename: Anne
authors.initials: A
authors.lastname: Simmonds
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis; D011687:Purines / Q000378:metabolism; D011743:Pyrimidines / Q000378:metabolism; D006801:Humans
chemical_list: C030985:purine; D011687:Purines; C030986:pyrimidine; D011743:Pyrimidines