Myelodysplasia and deficiency of uridine diphosphate-galactose 4-epimerase.
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.
Rosoff
P M
PM
Department of Medicine, New England Medical Center, Boston, MA 02111, USA.
D001853:Bone Marrow / Q000648:ultrastructure; D002675:Child, Preschool; D005260:Female; D006031:Glycosylation; D006801:Humans; D007970:Leukopenia / Q000150:complications; D008562:Membrane Glycoproteins / Q000097:blood / Q000378:metabolism; D008659:Metabolic Diseases / Q000150:complications / Q000201:enzymology*; D009190:Myelodysplastic Syndromes / Q000150:complications* / Q000175:diagnosis; D010641:Phenotype; D016184:Receptors, Colony-Stimulating Factor; D014534:UDPglucose 4-Epimerase / Q000172:deficiency* / Q000378:metabolism*
D008562:Membrane Glycoproteins; D016184:Receptors, Colony-Stimulating Factor; D014534:UDPglucose 4-Epimerase