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Article

Mutational analysis of the human dihydropyrimidine dehydrogenase gene by denaturing high-performance liquid chromatography.

Genetic testing - 1 Jan 2003

Fischer Joachim, Schwab Matthias, Eichelbaum Michel, Zanger Ulrich M

Abstract excerpt

Mutations in the DPYD gene, which encodes dihydropyrimidine dehydrogenase (DPD), the rate-limiting enzyme in the catabolism of pyrimidines, are responsible for an inborn error of metabolism associated with thymine-uraciluria and neurological symptoms. Because the antimetabolite 5-fluorouracil (5-FU) is metabolized by the same enzyme, deficient DPYD alleles may also constitute a risk factor for severe toxicity...

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Share to Antimetabolites, Antineoplastic
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Dihydrouracil Dehydrogenase (NADP)

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Share to Purine-Pyrimidine Metabolism, Inborn Errors

Source

Identifiers

PMID: 12885330
DOI: 10.1089/109065703322146777

Genes

DPYD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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