[Inherited disorders of purine and pyrimidine metabolism. State of art. Contribution for diagnosis].
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.
Diogo
Luísa
L
Unidade de Doenças Metabólicas, Hospital Pediátrico de Coimbra.
Proença
Teresa
T
Garcia
Paula
P
Olveira
Catarina
C
Simmonds
Anne
A
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
C030985:purine; D011687:Purines; C030986:pyrimidine; D011743:Pyrimidines