Hereditary Orotic Aciduria Industry: Understanding the Rare Genetic Disorder of Hereditary Orotic Aciduria

Hereditary orotic aciduria is a rare autosomal recessive genetic disorder characterized by the accumulation of orotic acid in the blood and urine. It is caused by a mutation in the UMPS gene resulting in a deficiency of the enzyme orotate phosphoribosyltransferase. This enzyme is critical for the biosynthesis of pyrimidine nucleotides like uracil, which are essential components of DNA and RNA. Without sufficient levels of this enzyme, orotic acid builds up in the body