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Clin Chim Acta ; 141(2-3): 227-34, 1984 Aug 31.
Article in English | MEDLINE | ID: mdl-6488556

ABSTRACT

Three unrelated patients with excessive thymine-uraciluria due to dihydropyrimidine dehydrogenase deficiency are described. Excretory values (mmol/g creatinine) were: uracil 2.0-10.5, thymine 2.3-7.5, 5-hydroxymethyluracil 0.2-0.9. Orally administered (index patient) uracil and thymine were excreted for the greater part whilst dihydrouracil and S-dihydrothymine were mainly metabolised. Dihydropyrimidine dehydrogenase activities (nmol X h-1 X mg-1 protein) in leucocytes were 0.04, 0.01 and less than 0.01 in the patients, 0.31-1.66 in their parents, and 1.01-4.46 in controls (n = 4). The patients presented with a non-specific clinical picture of cerebral dysfunction.


Subject(s)
Oxidoreductases/deficiency , Purine-Pyrimidine Metabolism, Inborn Errors/enzymology , Thymine/urine , Uracil/urine , Adolescent , Child , Child, Preschool , Chromatography, Thin Layer , Dihydrouracil Dehydrogenase (NADP) , Female , Humans , Leukocytes/enzymology , Male , Mass Spectrometry , Pentoxyl/analogs & derivatives , Pentoxyl/urine , Purine-Pyrimidine Metabolism, Inborn Errors/urine
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