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

doi:10.1016/j.bbadis.2010.03.013

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Article

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

Biochimica et biophysica acta - 1 Jan 2000

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

Abstract excerpt

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, biochemical and molecular findings of 17 newly identified DHP deficient patients as well as the analysis of the mutations in a...

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PMID: 20362666
DOI: 10.1016/j.bbadis.2010.03.013

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DPYS

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