1.
J Inherit Metab Dis
; 8 Suppl 2: 113-4, 1985.
Article
in English
| MEDLINE
| ID: mdl-3930854
2.
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.