Orotic aciduria type 1
Type of disease: Rare conditions
Orotic aciduria type I, also known as hereditary orotic aciduria, is a condition that occurs when the body cannot make a compound called UMP synthetase, which is an important enzyme that produces the chemicals that make up DNA. The main symptoms of this disease are megaloblastic anemia, as well as delays in physical and intellectual development. Orotic aciduria is caused by inherited changes (mutations) in the UMPS gene. Treatment consists of taking supplements of a compound called uridine. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.