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Inherited defects of purine and pyrimidine metabolism: Laboratory methods for diagnosis
Author(s) -
Duran M.,
Dorland L.,
Meuleman E. E. E.,
Allers P.,
Berger R.
Publication year - 1997
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005360907238
Subject(s) - purine , mass spectrometry , chromatography , purine metabolism , chemistry , pyrimidine , pyrimidine metabolism , uric acid , urinary system , urine , biochemistry , medicine , enzyme
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‐tive‐ion 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.