Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism.

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.

• Authors: R Berger, S A Stoker-de Vries, S K Wadman, M Duran, F A Beemer, P K de Bree, J J Weits-Binnerts, T J Penders, J K van der Woude
• Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 141 Issue 2-3 Pg. 227-34 (Aug 31 1984) ISSN: 0009-8981 [Print] Netherlands
• PMID: 6488556 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• 5-hydroxymethyluracil
• Uracil
• Pentoxyl
• Oxidoreductases
• Dihydrouracil Dehydrogenase (NADP)
• Thymine

Topics

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