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...

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Bibliographic Details
Published in:The Journal of pediatrics 1995-10, Vol.127 (4), p.605-608
Main Author: Rosoff, Philip M.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Bone Marrow - ultrastructure
Child, Preschool
Female
Glycosylation
Hematologic and hematopoietic diseases
Humans
Leukopenia - complications
Medical sciences
Membrane Glycoproteins - blood
Membrane Glycoproteins - metabolism
Metabolic Diseases - complications
Metabolic Diseases - enzymology
Myelodysplastic Syndromes - complications
Myelodysplastic Syndromes - diagnosis
Other diseases. Hematologic involvement in other diseases
Phenotype
Receptors, Colony-Stimulating Factor
UDPglucose 4-Epimerase - deficiency
UDPglucose 4-Epimerase - metabolism
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Summary: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. (J P EDIATR 1995;127:605-8)
ISSN:0022-3476
1097-6833
DOI:10.1016/S0022-3476(95)70124-9