Defective UMP synthase can result in orotic aciduria, a metabolic disorder.
2.
A UMP synthetase deficiency can result in a metabolic disorder called orotic aciduria.
3.
Uridine triacetate is a drug approved by FDA to be used in the treatment of hereditary orotic aciduria.
4.
This can be distinguished from hereditary orotic aciduria ( seen above ) by assessing blood ammonia levels and blood urea nitrogen ( BUN ).
5.
Deficiencies of enzymes involved in pyrimidine synthesis can lead to the genetic disease Orotic aciduria which causes excessive excretion of orotic acid in the urine.
6.
Orotic aciduria is associated with megaloblastic anemia due to decreased pyrimidine synthesis, which leads to decreased nucleotide-lipid cofactors needed for erythrocyte membrane synthesis in the bone marrow.
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