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When there is an excessive amount of orotic acid being excreted along with the urine, the condition is known as Orotic Aciduria. This condition generally affects the pyrimidine biosynthesis tract. It is an autosomal recessive disorder that leads to growth and development issues as well as anaemia.
HOW IS OROTIC ACIDURIA DIAGNOSED?
The diagnosis of the condition is conducted by a urologist. The condition is diagnosed with the help of an examination of the stool and blood to find the genetic mutations that may be responsible for the same. Also, it may be diagnosed on the basis of the symptoms displayed by the patient.
HOW IS OROTIC ACIDURIA TREATED?
Administration of cytidine monophosphate and uridine monophosphate reduces urinary orotic acid and the anaemia. Administration of uridine, which is converted to UMP, will bypass the metabolic block and provide the body with a source of pyrimidine.
DID YOU KNOW?
Orotic Aciduria is an extremely rare and inherited disorder.