Dihydropyrimidinase Deficiency


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.

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References

  1. Uniprot: Q14117
  2. OMIM: Entry 222748
  3. 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 38) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
  4. 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
  5. 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. Pubmed
  6. 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