Myelodysplasia and deficiency of uridine diphosphate-galactose 4-epimerase.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Rosoff, PM

Published Date

  • October 1995

Published In

Volume / Issue

  • 127 / 4

Start / End Page

  • 605 - 608

PubMed ID

  • 7562286

Pubmed Central ID

  • 7562286

International Standard Serial Number (ISSN)

  • 0022-3476

Digital Object Identifier (DOI)

  • 10.1016/s0022-3476(95)70124-9


  • eng

Conference Location

  • United States