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Indian J Pediatr ; 78(10): 1293-5, 2011 Oct.
Article in English | MEDLINE | ID: mdl-21630071

ABSTRACT

A 2- year- old boy presented with non responsive megaloblastic anemia, growth failure and developmental delay. Blood levels of B(12), folic acid and iron were normal. Tandem mass spectroscopy for common inborn errors of metabolism did not reveal any abnormality. There was an increased excretion of orotic acid in urine. The authors report this as a rare cause of megaloblastic anemia.


Subject(s)
Anemia, Megaloblastic/etiology , Purine-Pyrimidine Metabolism, Inborn Errors/diagnosis , Child, Preschool , Humans , Male , Orotate Phosphoribosyltransferase/deficiency , Orotidine-5'-Phosphate Decarboxylase/deficiency
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