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Pathway Description
Dihydropyrimidinase Deficiency
Homo sapiens
Disease Pathway
Dihydropyrimidinase Deficiency (DHPA, Dihydropyrimidinuria Deficiency, DPH Deficiency) is an autosomal recessive disease caused by a mutation in the DPYS gene which codes for dihydropyrimidinase. A deficiency in this enzyme results in accumulation of dihydrothymine, dihydrouracil, thymine, and uracil in urine. Symptoms, which present at birth, include metabolic acidosis, difficulty feeding, and seizures.
References
Dihydropyrimidinase Deficiency References
[Uniprot: Q14117](http://www.uniprot.org/uniprot/Q14117)
[OMIM: Entry 222748](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222748)
Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (2nd ed) (2007) p.35 Heilbronn: SPS Verlagsgesellschaft
Duran M, Rovers P, de Bree PK, Schreuder CH, Beukenhorst H, Dorland L, Berger R: Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism. J Inherit Metab Dis. 1991;14(3):367-70.
Pubmed: 1770794
Hamajima N, Kouwaki M, Vreken P, Matsuda K, Sumi S, Imaeda M, Ohba S, Kidouchi K, Nonaka M, Sasaki M, Tamaki N, Endo Y, De Abreu R, Rotteveel J, van Kuilenburg A, van Gennip A, Togari H, Wada Y: Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene. Am J Hum Genet. 1998 Sep;63(3):717-26. doi: 10.1086/302022.
Pubmed: 9718352
van Gennip AH, de Abreu RA, van Lenthe H, Bakkeren J, Rotteveel J, Vreken P, van Kuilenburg AB: Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria. J Inherit Metab Dis. 1997 Jul;20(3):339-42.
Pubmed: 9266350
van Kuilenburg AB, Dobritzsch D, Meijer J, Meinsma R, Benoist JF, Assmann B, Schubert S, Hoffmann GF, Duran M, de Vries MC, Kurlemann G, Eyskens FJ, Greed L, Sass JO, Schwab KO, Sewell AC, Walter J, Hahn A, Zoetekouw L, Ribes A, Lind S, Hennekam RC: Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients. Biochim Biophys Acta. 2010 Jul-Aug;1802(7-8):639-48. doi: 10.1016/j.bbadis.2010.03.013. Epub 2010 Apr 1.
Pubmed: 20362666
Pyrimidine Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
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