Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation.

摘要: Recent findings suggest that inborn errors of pyrimidine catabolism are less rare than generally assumed. We propose a complete set diagnostic methods for these disorders, suitable the clinical chemistry laboratory, and present relevant reference data. Applications thin-layer chromatography, high-performance liquid conventional cation-exchange amino acid analysis lead to detection various defects in degradation, including recently described deficiencies dihydropyrimidine dehydrogenase dihydropyrimidinase. also illustrate potential analyze catabolites expected be increased urine patients with ureidopropionase deficiency. Possible pitfalls diagnosis ways prevent misdiagnosis demonstrated. The offer possibilities laboratories extend their capacity new area degradation defects.