Dihydropyrimidine Dehydrogenase Deficiency (DHPD)

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

1. Wikipedia: Dihydropyrimidine dehydrogenase deficiency
2. Uniprot: Q12882
3. OMIM: Entry 274270
4. Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (pp 39) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
5. 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
6. 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
7. 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