WHAT IS OROTACIDURIA

Sharipov S.A.; Kasimov U.K.; Mukhamedova S.N.

doi:10.5281/zenodo.11176050

Sharipov S.A., Kasimov U.K., Mukhamedova S.N.

Abstract. Orotic aciduria is a hereditary disease of pyrimidine synthesis, which is manifested by increased urinary excretion of orotic acid (orotate), T-lymphocyte deficiency, megaloblastic anemia, and delayed mental and physical development. With this disease, the activity of the enzymes orotidyl pyrophosphorylase and orotidyl decarboxylase, which convert orotic acid into the nucleotide orotidine monophosphate necessary for the synthesis of nucleic acids, is reduced.

Keywords: orotaciduria, ornithine cycle, pyrimidine, enzyme, uridine, dihydrouracil, dihydrothymine, pantothenic acid, dihydroorotic acid

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