A screening method for dihydropyrimidine dehydrogenase deficiency with colorimetric detection of urinary uracil.

Dihydropyrimidine 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 between neurological involvement and metabolic disorder is still obscure. For the purpose of looking for more patients with DHPDH deficiency, a screening method for DHPDH deficiency is introduced. Urinary uracil was determined colorimetrically. This method is not so complicated and less time consuming as previous method such as liquid chromatography. With this method, it is possible to detect about 1 mmol/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 positive. The urine from 83 epileptic children were screened with this method, but no patients were found.