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A screening method for dihydropyrimidine dehydrogenase deficiency with colorimetric detection of urinary uracil. Adv Exp Med Biol 1989;253A:119-22

Date

01/01/1989

Pubmed ID

2624179

DOI

10.1007/978-1-4684-5673-8_18

Scopus ID

2-s2.0-0024824451   1 Citation

Abstract

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.

Author List

Okajima K, Yamamoto T, Suchi M, Wada Y

Author

Mariko Suchi MD, PhD Associate Professor in the Pathology department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Child
Colorimetry
Dihydrouracil Dehydrogenase (NADP)
Humans
Oxidoreductases
Thymine
Uracil
jenkins-FCD Prod-482 91ad8a360b6da540234915ea01ff80e38bfdb40a