Elevated urinary<unk>  acid levels can also arise secondary to blockage of the urea cycle, particularly in ornithine transcarbamylase deficiency (OTC deficiency). This can be distinguished from hereditary<unk>  by assessing blood ammonia levels and blood urea nitrogen (BUN). In OTC deficiency, hyperammonemia and decreased BUN are seen because the urea cycle is not functioning properly, but megaloblastic anemia will not occur because pyrimidine synthesis is not affected. In<unk> , the urea cycle is not affected.<unk>  can be diagnosed through genetic sequencing of the UMPS gene.
Orotic aciduria
Lysinuric protein intolerance
Hawkinsinuria
Urocanic aciduria
Xanthinuria
Pentosuria
Alkaptonuria
Glycosuria