Myelodysplasia and deficiency of uridine diphosphate-galactose 4-epimerase

J Pediatr. 1995 Oct;127(4):605-8. doi: 10.1016/s0022-3476(95)70124-9.


A 4-year-old girl known to have peripheral uridine diphosphate-galactose 4-epimerase deficiency was examined for bruising and thrombocytopenia. She had dysplastic peripheral blood and bone marrow changes, with a global platelet function defect. Uridine diphosphate-galactose-4-epimerase participates in a metabolic pathway that provides substrates for posttranslational glycosylation of secreted and membrane glycoproteins, including hematopoietic growth factors and their receptors; there may be a causal relationship between the two disorders.

Publication types

  • Case Reports

MeSH terms

  • Bone Marrow / ultrastructure
  • Child, Preschool
  • Female
  • Glycosylation
  • Humans
  • Leukopenia / complications
  • Membrane Glycoproteins / blood
  • Membrane Glycoproteins / metabolism
  • Metabolic Diseases / complications
  • Metabolic Diseases / enzymology*
  • Myelodysplastic Syndromes / complications*
  • Myelodysplastic Syndromes / diagnosis
  • Phenotype
  • Receptors, Colony-Stimulating Factor
  • UDPglucose 4-Epimerase / deficiency*
  • UDPglucose 4-Epimerase / metabolism*


  • Membrane Glycoproteins
  • Receptors, Colony-Stimulating Factor
  • UDPglucose 4-Epimerase