Megaloblastic anemia--a rare cause

Indian J Pediatr. 2011 Oct;78(10):1293-5. doi: 10.1007/s12098-011-0461-6. Epub 2011 Jun 1.

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.

Publication types

  • Case Reports

MeSH terms

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

Substances

  • Orotate Phosphoribosyltransferase
  • Orotidine-5'-Phosphate Decarboxylase

Supplementary concepts

  • Oroticaciduria 1