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Hereditary orotic aciduria is caused by variations in the uridine monophosphate synthetase (UMPS) gene. Genes provide instructions for creating proteins that ... Read More

Orotic aciduria is an error of pyrimidine metabolism manifested by retarded growth and development, and megaloblastic anemia unresponsive to vitamin B12 and ... Read More

Summary Summary ; mutations ) in the UMPS ; gene and inheritance is ; autosomal recessive . OA1 differs from other causes of orotic aciduria, which may include ... Read More

Orotic aciduria is a rare autosomal recessive disorder characterized by megaloblastic anemia and orotic acid crystalluria that is frequently associated with ... Read More

Orotic aciduria refers to an autosomal recessive condition characterized by excessive excretion of orotic acid in urine in the presence of normal levels of ... Read More

orotic aciduria, hereditary metabolic disorder characterized by an anemia with many large immature red blood cells, low white blood cell count, ... Read More

Hereditary orotic aciduria ... A rare genetic disorder of pyrimidine metabolism characterized by early onset of megaloblastic anemia, global developmental delay, ... Read More

2021年6月1日 — Orotic aciduria is an extremely rare genetic disorder that can result in crystalluria, megaloblastic anemia Anemia Anemia is a condition in ... Read More