Abstract
Deficiency of UDP-galactose 4-epimerase which catalyzes the interconversion of UDP-gal and UDP-glc, was found in the peripheral blood cells of two newborn children detected by routine screening. Two maternal relatives of one child are also affected. The disorder is characterized by elevated erythrocyte galactose 1-phosphate /blood and urinary galactose levels are normal/ and is inherited as an autosomal recessive trait. Physical examination and hematological findings are unremarkable. Liver and cultured skin fibroblasts have normal epimerase activity. Peripheral blood lymphocytes, which lack the enzyme in vivo, are capable of producing it upon stimulation with phytohemagglutinin in vitro. In addition, a lymphoblaat cell line derived by transformation with Epstein-Barr virus from the peripheral blood of one child produces a normal amount of epimerase indistinguishable in kinetic properties from that produced by normal cell lines. It is not yet possible to decide if the deficiency state of this enzyme represents a simple lack of a presumed isoenzyme or a defect in the regulation of gene expression.
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Gitzelmann, R., Mitchell, B. & Steinmann, B. UDP-GALACTOSE 4-EPIMERASE DEFICIENCY IN BLOOD CELLS. Pediatr Res 10, 557 (1976). https://doi.org/10.1203/00006450-197605000-00016
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DOI: https://doi.org/10.1203/00006450-197605000-00016
