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Pathway Description
UMP Synthase Deficiency (Orotic Aciduria)
Homo sapiens
Disease Pathway
Created: 2013-08-19
Last Updated: 2022-11-29
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
[OMIM: Entry 258900](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=258900)
[Wikipedia: Uridine monophosphate synthetase](http://en.wikipedia.org/wiki/Uridine_monophosphate_synthetase)
[Uniprot: A8K5J1](http://www.uniprot.org/uniprot/A8K5J1)
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Orotic aciduria. Nutr Rev. 1969 May;27(5):142-4.
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Pyrimidine Metabolism References
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Pubmed: 1979741
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Pubmed: 15164053
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