A Screening Method for Dihydropyrimidine Dehydrogenase Deficiency with Colorimetric Detection of Urinary Uracil

Abstract

Dlhydropyrimidine dehydrogenase deficiency has a neurological involvement as a common symptom among reported cases. No major sympTom except that exists for DHPDH deficiency. On the other hand. relationship ~elween neuroiogical lnvolvement and metabolic disorder is stIli obsc~re. ror toe purpose 01 looking for more patients with DHPDH deficiency. a screening method for DHPDB deficiency is introduced.Urinary uracil was determined colorimetrically. ThiS method is not so complicated and less time ronsuming as previous method such as liquid chromatography. With this method. it is possible to detect about 1 I1IllIol·l (12 mg/dl) of uracil. which is sensitive enough for the screening for DHPDH deficiency. Interfering substance in urine were negligible. Addition of albumin to normal urine dose not affect the result but proteinuria results in false posi tive.The urine from 83 epileptic children were screened with this method. but no patients were found. 119 K. Mikanagi et al. (eds.), Purine and Pyrimidine Metabolism in Man VI