Myelodysplasia and deficiency of uridine diphosphate-galactose 4-epimerase.
case_report · Level V
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- Record sourced from PubMed, PMID 7562286.
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Abstract
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.
Medical subject headings
- Metabolic Diseases
- Myelodysplastic Syndromes
- UDPglucose 4-Epimerase