UMP Synthase Deiciency (Orotic Aciduria)


Orotic Aciduria (Orotic acidemia) is caused by a defect in uridine monophosphate synthetase (UMPS) (orotate phosphoribosyl transferase and orotidine-5’-decarboxylase), an enzyme that catalyses the formation of uridine monophosphate (UMP), an energy carrying molecule in many important biosynthetic pathways. This disease is marked by very high accumulation of orotic acid in the urine, sometimes causing urinary obstruction. Symptoms include megaloblastic anemia as well as failure to thrive.

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References

  1. OMIM: Entry 258900
  2. Wikipedia: Uridine monophosphate synthetase
  3. Uniprot: A8K5J1
  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 102) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
  5. Becroft DM, Phillips LI, Simmonds A: Hereditary orotic aciduria: long-term therapy with uridine and a trial of uracil. J Pediatr. 1969 Nov;75(5):885-91. Pubmed
  6. Qumsiyeh MB, Valentine MB, Suttle DP: Localization of the gene for uridine monophosphate synthase to human chromosome region 3q13 by in situ hybridization. Genomics. 1989 Jul;5(1):160-2. Pubmed
  7. Suchi M, Mizuno H, Kawai Y, Tsuboi T, Sumi S, Okajima K, Hodgson ME, Ogawa H, Wada Y: Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families. Am J Hum Genet. 1997 Mar;60(3):525-39. Pubmed
  8. Winkler JK, Suttle DP: Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria fibroblasts. Am J Hum Genet. 1988 Jul;43(1):86-94. Pubmed