title: Inherited defects of purine and pyrimidine metabolism: laboratory methods for diagnosis.
abstract: The diagnosis of the majority of the known inherited defects of purine and pyrimidine metabolism can be achieved by analysing urinary excretion profiles. A quantitative measurement of the urinary uric acid/creatinine ratio should be the first approach for purine defects. The general screening system involves separation of the bases and nucleosides by reversed-phase high-performance liquid chromatography and multiwavelength UV detection. The catabolic defects of pyrimidine degradation can be diagnosed by gas chromatography-mass spectrometry as used for organic acids. For the detection of adenylosuccinase deficiency, several simple but effective thin-layer chromatographic methods are available. Techniques such as liquid chromatography-mass spectrometry, direct nega-tiveion fast-atom bombardment mass spectrometry, and proton nuclear magnetic resonance spectroscopy give promising results, but are not yet being used on a large scale. Patients should keep to a simple diet and preferably be free of medication in order to allow a reliable interpretation of the analytical data.
authors.affiliation: University Children's Hospital, Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: Duran
authors.forename: L
authors.initials: L
authors.lastname: Dorland
authors.forename: E E
authors.initials: EE
authors.lastname: Meuleman
authors.forename: P
authors.initials: P
authors.lastname: Allers
authors.forename: R
authors.initials: R
authors.lastname: Berger
mesh_terms: D000818:Animals; D016477:Artifacts; D002845:Chromatography / Q000379:methods; D006801:Humans; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D011687:Purines / Q000378:metabolism; D011743:Pyrimidines / Q000378:metabolism; D014527:Uric Acid / Q000378:metabolism
chemical_list: D011687:Purines; D011743:Pyrimidines; D014527:Uric Acid; C030986:pyrimidine; C030985:purine