Comparative Study of Thymine and Uracil Metabolism in Healthy Persons and in a Patient with Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine dehydrogenase (EC 22.214.171.124) deficiency has so far been reported in 8 patients, 7 of which were diagnosed in The Netherlands1–5. The patients did not exhibit a characteristic clinical picture, although a form of epilepsy was seen in half of the patients. The other 4 patients were below the age of 4 years at the time of diagnosis. Therefore, it cannot be excluded that epileptic symptoms will develop later on. All patients were-discovered by the increased excretion of thymine and uracil. In most of the cases also an elevated excretion of 5-hydroxymethyluracil (5-HMU) was present.
KeywordsIndex Patient Dihydropyrimidine Dehydrogenase Pyrimidine Metabolism Aminoisobutyric Acid Elevated Excretion
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