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Pathway Description
Dihydropyrimidine Dehydrogenase Deficiency (DHPD)
Homo sapiens
Disease Pathway
Dihydropyrimidine Dehydrogenase Deficiency (DHPD; Thymine-uraciluria) is a rare autosomal recessive disorder caused by a mutation in the DPYD gene which codes for dihydropyrimidine dehydrogenase. A deficiency in this enzyme results in accumulation of 5-hydroxymethyluracil, thymine, and uracil in urine. Symptoms include nystagmus, large liver, hypotonia, growth and mental retardation, and seizures.
References
Dihydropyrimidine Dehydrogenase Deficiency (DHPD) References
[Wikipedia: Dihydropyrimidine dehydrogenase deficiency](http://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency)
[Uniprot: Q12882](http://www.uniprot.org/uniprot/Q12882)
[OMIM: Entry 274270](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274270)
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.36 Heilbronn: SPS Verlagsgesellschaft
Berger R, Stoker-de Vries SA, Wadman SK, Duran M, Beemer FA, de Bree PK, Weits-Binnerts JJ, Penders TJ, van der Woude JK: Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism. Clin Chim Acta. 1984 Aug 31;141(2-3):227-34.
Pubmed: 6488556
Van Kuilenburg AB, Vreken P, Abeling NG, Bakker HD, Meinsma R, Van Lenthe H, De Abreu RA, Smeitink JA, Kayserili H, Apak MY, Christensen E, Holopainen I, Pulkki K, Riva D, Botteon G, Holme E, Tulinius M, Kleijer WJ, Beemer FA, Duran M, Niezen-Koning KE, Smit GP, Jakobs C, Smit LM, Van Gennip AH, et al.: Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum Genet. 1999 Jan;104(1):1-9.
Pubmed: 10071185
Brockstedt M, Jakobs C, Smit LM, van Gennip AH, Berger R: A new case of dihydropyrimidine dehydrogenase deficiency. J Inherit Metab Dis. 1990;13(1):121-4.
Pubmed: 2109146
Gonzalez FJ, Fernandez-Salguero P: Diagnostic analysis, clinical importance and molecular basis of dihydropyrimidine dehydrogenase deficiency. Trends Pharmacol Sci. 1995 Oct;16(10):325-7.
Pubmed: 7491709
Glycine and Serine 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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