Skip to main content

HPLC Assay of Uridine Monophosphate Synthase (UMPS) in Chorionic Villus Samples (CVS) and Erythrocytes (RBC)

  • Chapter

Part of the Advances in Experimental Medicine and Biology book series (AEMB,volume 309B)

Abstract

The activities of the enzymes which catalyse the last two steps of the pyrimidine de novo synthetic pathway — orotic acid phosphoribosyltransferase (OPRT) and orotidine-5′-monophosphate decarboxylase (ODC) — are contained in a single bifunctional protein, UMP synthase (UMPS) (1). Patients with the autosomal recessive disorder, hereditary oroticaciduria, have coordinate deficiencies of both these activities (2). Previous assays for the human enzyme have measured CO2 release from [14C]-orotic acid (2). This paper reports results using an HPLC method employing an ion-pair reversed phase system, developed to analyse the products of UMPS activity in lysates of RBC and CVS.

This is a preview of subscription content, access via your institution.

Buying options

Chapter
USD   29.95
Price excludes VAT (USA)
  • DOI: 10.1007/978-1-4615-7703-4_8
  • Chapter length: 4 pages
  • Instant PDF download
  • Readable on all devices
  • Own it forever
  • Exclusive offer for individuals only
  • Tax calculation will be finalised during checkout
eBook
USD   59.99
Price excludes VAT (USA)
  • ISBN: 978-1-4615-7703-4
  • Instant PDF download
  • Readable on all devices
  • Own it forever
  • Exclusive offer for individuals only
  • Tax calculation will be finalised during checkout
Softcover Book
USD   79.99
Price excludes VAT (USA)

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Suttle DP, Becroft DMW, Webster DR. Hereditary orotic aciduria and other disorders of pyrimidine metabolism. Chapter 43. In:Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. New York:McGraw-Hill, 1989; 6th edition:1095–1129

    Google Scholar 

  2. Livingstone LR. Jones ME. The purification and preliminary characterisation of LIMP synthase from human placenta J Biol Chem 1987; 262: 15726–15733.

    CAS  Google Scholar 

  3. Perignon JL, Durandy A, Peter MO, Freycon F, Durmez Y, Griscelli C. Early prenatal diagnosis of inherited severe immunodeficiencies linked to enzyme deficiencies. J Pediatr 1987; 111: 595–598.

    CrossRef  CAS  PubMed  Google Scholar 

  4. Morris, G.S., Simmonds, H.A. & Davies, P.M. (1986) Use of biological fluids for the rapid diagnosis of potentially lethal inherited disorders of purine and pyrimidine metabolism. Biomed Chromatog 1, 109–118.

    CrossRef  CAS  Google Scholar 

  5. Fairbanks LD, Simmonds HA, Webster DR. Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders. J Inher Metab Dis 1987; 10: 174–186.

    CrossRef  CAS  PubMed  Google Scholar 

  6. Traut TW. Uridine-5’-phosphate synthase:evidence for substrate cycling involving this bifunctional protein. Arch Biochem Biophys 1989; 268: 108–115.

    CrossRef  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and Permissions

Copyright information

© 1991 Plenum Press, New York

About this chapter

Cite this chapter

Fairbanks, L.D., Duley, J.A., Shores, A.J., Simmonds, H.A. (1991). HPLC Assay of Uridine Monophosphate Synthase (UMPS) in Chorionic Villus Samples (CVS) and Erythrocytes (RBC). In: Harkness, R.A., Elion, G.B., Zöllner, N. (eds) Purine and Pyrimidine Metabolism in Man VII. Advances in Experimental Medicine and Biology, vol 309B. Springer, New York, NY. https://doi.org/10.1007/978-1-4615-7703-4_8

Download citation

  • DOI: https://doi.org/10.1007/978-1-4615-7703-4_8

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4615-7705-8

  • Online ISBN: 978-1-4615-7703-4

  • eBook Packages: Springer Book Archive