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Article

Lack of correlation between phenotype and genotype for the polymorphically expressed dihydropyrimidine dehydrogenase in a family of Pakistani origin.

Pharmacogenetics - 1 Apr 1997

Fernandez-Salguero P M, Sapone A, Wei X, Holt J R, Jones S, Idle J R, Gonzalez F J

Abstract excerpt

Dihydropyrimidine dehydrogenase (DPD) is the initial and rate-limiting enzyme in pyrimidine catabolism. DPD deficiency is associated with an increased risk of toxicity in cancer patients receiving 5-fluorouracil (5-PU) treatment. DPD deficiency causes an inborn error of metabolism called thymine-uraciluria that is in some instances associated with convulsive disorders and developmental delay in children. We have...

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Source

Identifiers

PMID: 9170156
DOI: 10.1097/00008571-199704000-00012

Genes

DPYD
STS

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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Lack of correlation between phenotype and genotype for the polymorphically expressed dihydropyrimidine dehydrogenase in a family of Pakistani origin.PMID 9170156Read ↗

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.Semantic proximity Read ↗

Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity.Semantic proximity Read ↗

Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function.Semantic proximity Read ↗

Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W.Semantic proximity Read ↗

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.Semantic proximity Read ↗

Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure.Semantic proximity Read ↗

Dihydropyrimidine dehydrogenase (DPD) deficiency: novel mutations in the DPD gene.Semantic proximity Read ↗

Genotyping of a family with a novel deleterious DPYD mutation supports the pretherapeutic screening of DPD deficiency with dihydrouracil/uracil ratio.Semantic proximity Read ↗

Characterization of the human dihydropyrimidine dehydrogenase gene.Semantic proximity Read ↗

Dihydropyrimidine dehydrogenase pharmacogenetics in the Taiwanese population.Semantic proximity Read ↗

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