Hereditary Orotic Aciduria: An Overview of a Rare Genetic Disorder

Hereditary orotic aciduria is a rare inherited genetic disorder that affects pyrimidine nucleotide synthesis in the body. It is caused by a mutation in the UMPS gene that encodes for the enzyme orotate phosphoribosyltransferase (OPRT). This enzyme plays a vital role in the pyrimidine salvage pathway involved in the biosynthesis of uridine monophosphate (UMP), which is required for the formation of DNA and RNA. A deficiency of OPRT due to a mutation results in orotic acid accumulation in the blood and urine.