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Biochemistry
A 4 year old girl presented to hospital with failure to thrive. Her peripheral blood smear showed megaloblastic anemia. Vitamin B12 & folate were given but anemia did not improve. Enzyme assay from the cultured PBMC showed deficiency of OP (Orotate Phospho Ribosyl Transferase). What could be the probable diagnosis ?
Orotate deficiency
Gout
Orotic aciduria
SCID
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