Abstract
In man pyrmidines are degraded in four steps catalysed by dihydropyrimidine dehydrogenase (DH PD, EC 1.3.1.2), dihydropyrmidinase (DHP, EC 3.5.2.2), ureidopropionase (UP, EC 3. 5.1.6) and a transaminase. Deficiencies of the first and the last enzymes are well known and adequate methods for their detection are available. We present a simple method based on routine amino acid analysis which enables screening of the two remaining defects. The usefulness of the method is illustrated in a case of presumed DHP deficiency
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