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Pathway Description
UMP Synthase Deficiency (Orotic Aciduria)
Rattus norvegicus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-09-15
Orotic aciduria, also known as UMP synthase deficiency, is an autosomal recessive disorder of pyrimidine metabolism caused by a defective uridine monophosphate synthetase (UMPS). UMPS is a multifunctional protein which carries out the functions of both orotate phosphoribosyltransferase (OPRT) and orotidine 5'-phosphate decarboxylase (ODC). UMPS catalyzes the conversion of orotic acid into uridine monophosphate (UMP) which is a nucleotide incorporated into ribonucleic acid (RNA). This disease is characterized by a very large accumulation of orotic acid in the urine, occasionally causing urinary obstruction. Symptoms of the disease include megaloblastic anemia as well as retarded growth and development.
References
UMP Synthase Deficiency (Orotic Aciduria) References
Orotic aciduria. Nutr Rev. 1969 May;27(5):142-4.
Pubmed: 4893711
Pyrimidine Metabolism References
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Pubmed: 19754428
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Pubmed: 7660999
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Pubmed: 10727948
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Pubmed: 15044733
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Pubmed: 12167635
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Pubmed: 15489334
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Pubmed: 15057822
Mehus JG, Deloukas P, Lambeth DO: NME6: a new member of the nm23/nucleoside diphosphate kinase gene family located on human chromosome 3p21.3. Hum Genet. 1999 Jun;104(6):454-9. doi: 10.1007/s004390050987.
Pubmed: 10453732
Tanabe T, Yamada M, Noma T, Kajii T, Nakazawa A: Tissue-specific and developmentally regulated expression of the genes encoding adenylate kinase isozymes. J Biochem. 1993 Feb;113(2):200-7. doi: 10.1093/oxfordjournals.jbchem.a124026.
Pubmed: 8468325
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from SMP0000219
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