Orotic aciduria is a rare autosomal recessive disorder characterized by megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation.
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Orotic aciduria (AKA hereditary orotic aciduria) is a disease caused by an enzyme deficiency, resulting in a decreased ability to synthesize pyrimidines.
Sep 6, 2018 · Hereditary orotic aciduria is an extremely rare genetic disorder. When untreated, affected infants can develop a blood (hematologic) disorder ...
A rare genetic disorder of pyrimidine metabolism characterized by early onset of megaloblastic anemia, global developmental delay, and failure to thrive, ...
Jan 9, 2021 · Hereditary orotic aciduria (HOA) is a very rare inborn error of pyrimidine metabolism. It results from a defect of the ...
Orotic aciduria is an error of pyrimidine metabolism manifested by retarded growth and development, and megaloblastic anemia unresponsive to vitamin B12 and ...
Orotic aciduria is a rare autosomal recessive disorder characterized by megaloblastic anemia and orotic acid crystalluria that is frequently associated with ...
Orotic aciduria refers to an autosomal genetic condition characterized by excessive excretion of orotic acid in urine. It is characterized by a deficiency in ...
Mar 14, 2023 · Hereditary orotic aciduria is an autosomal recessive disease caused by deficiency of the uridine monophosphate synthase (UMPS) enzyme which ...
Orotic aciduria, hereditary metabolic disorder characterized by an anemia with many large immature red blood cells, low white blood cell count, ...
