Dihydropyrimidinase deficiency

Common Name(s)

Dihydropyrimidinase deficiency

DPYS deficiency is an autosomal recessive disease characterized by the presence of dihydropyrimidinuria. The clinical phenotype is highly variable, ranging from early infantile onset of severe neurologic involvement, dysmorphic features, and feeding problems to late onset of mild intellectual disability and even asymptomatic individuals. Patients with a complete or partial deficiency have an increased risk of developing severe toxicity after administration of the anticancer drug 5-fluorouracil (5-FU) (summary by {4:Nakajima et al., 2017}). See also dihydropyrimidine dehydrogenase deficiency ({274270}), a similar disorder.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dihydropyrimidinase deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Dihydropyrimidinase deficiency" returned 4 free, full-text research articles on human participants. First 3 results:

Diagnosis of dihydropyrimidinase deficiency in a Chinese boy with dihydropyrimidinuria.
 

Author(s): C W Yeung, M M Yau, C K Ma, T S Siu, Sidney Tam, C W Lam

Journal: Hong Kong Med J. 2013 Jun;19(3):272-5.

 

Dihydropyrimidinase deficiency is an autosomal recessive inborn error of metabolism characterised by the presence of dihydropyrimidinuria. Its clinical presentation is variable and has also been reported in asymptomatic subjects. We report the first case of dihydropyrimidinase deficiency ...

Last Updated: 31 Dec 1969

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Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.
 

Author(s): André B P van Kuilenburg, Doreen Dobritzsch, Judith Meijer, Rutger Meinsma, Jean-François Benoist, Birgit Assmann, Susanne Schubert, Georg F Hoffmann, Marinus Duran, Maaike C de Vries, Gerd Kurlemann, François J M Eyskens, Lawrence Greed, Jörn Oliver Sass, K Otfried Schwab, Adrian C Sewell, John Walter, Andreas Hahn, Lida Zoetekouw, Antonia Ribes, Suzanne Lind, Raoul C M Hennekam

Journal: Biochim. Biophys. Acta. ;1802(7-8):639-48.

 

Dihydropyrimidinase (DHP) is the second enzyme of the pyrimidine degradation pathway and catalyses the ring opening of 5,6-dihydrouracil and 5,6-dihydrothymine. To date, only 11 individuals have been reported suffering from a complete DHP deficiency. Here, we report on the clinical, ...

Last Updated: 31 Dec 1969

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Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity.
 

Author(s): André B P van Kuilenburg, Rutger Meinsma, Bernard A Zonnenberg, Lida Zoetekouw, Frank Baas, Koichi Matsuda, Nanaya Tamaki, Albert H van Gennip

Journal: Clin. Cancer Res.. 2003 Oct;9(12):4363-7.

 

Dihydropyrimidinase (DHP) is the second enzyme in the catabolism of 5-fluorouracil (5FU), and it has been suggested that patients with a deficiency of this enzyme are at risk from developing severe 5FU-associated toxicity. In this study, we demonstrated for the first time that in ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Dihydropyrimidinase deficiency" returned 0 free, full-text review articles on human participants.

 
 
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