title: Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.
abstract: Purine and pyrimidine disorders represent a heterogeneous group with variable clinical symptoms and low prevalence rate. In the last thirteen years, we have studied urine/plasma specimens from about 1600 patients and we have identified 35 patients: eight patients with adenylosuccinate lyase deficiency, eight patients with hypoxanthine-guanine phosphoribosyltransferase deficiency, one patient with purine nucleoside phosphorylase deficiency, ten patients with xanthine dehydrogenase deficiency, six patients with molybdenum cofactor deficiency and two patients with dihydropyrimidine dehydrogenase deficiency. Despite low incidence of these diseases, our findings highlight the importance of including the purine and pyrimidine analysis in the selective screening for inborn errors of metabolism in specialized laboratories, where amino acid and organic acid disorders are simultaneously investigated.
authors.affiliation: a Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Universidad Autónoma de Madrid (UAM), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) , Madrid , Spain.
authors.forename: M
authors.initials: M
authors.lastname: Castro
authors.forename: R
authors.initials: R
authors.lastname: Carrillo
authors.forename: F
authors.initials: F
authors.lastname: García
authors.forename: P
authors.initials: P
authors.lastname: Sanz
authors.forename: I
authors.initials: I
authors.lastname: Ferrer
authors.forename: P
authors.initials: P
authors.lastname: Ruiz-Sala
authors.forename: A I
authors.initials: AI
authors.lastname: Vega
authors.forename: L
authors.initials: L
authors.lastname: Ruíz Desviat
authors.forename: B
authors.initials: B
authors.lastname: Pérez
authors.forename: C
authors.initials: C
authors.lastname: Pérez-Cerdá
authors.forename: B
authors.initials: B
authors.lastname: Merinero
authors.forename: M
authors.initials: M
authors.lastname: Ugarte
mesh_terms: D006801:Humans; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology
keywords: P&P diagnosis; Purine defects; pyirimidine defects