Hereditary Orotic Aciduria

Hereditary Orotic Aciduria, also known as orotidylic decarboxylase deficiency, is related to orotic aciduria and megaloblastic anemia. An important gene associated with Hereditary Orotic Aciduria is UMPS (Uridine Monophosphate Synthetase). Affiliated tissues include liver and heart, and related phenotypes are global developmental delay and aminoaciduria