Dec 1, 1975

Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture

Proceedings of the National Academy of Sciences of the United States of America
B MitchellR Gitzelmann


Stimulation with phytohemagglutinin of the leukocytes from six of the seven known individuals with UDP-galactose 4-epimerase (= UDP-glucose 4-epimerase; EC deficiency consistently resulted in the appearance of epimerase activity in the cultured cells. A long-term lymphoblast culture derived from one proband also contained an active epimerase enzyme. A comparison of the properties of this enzyme with those of epimerase produced by control lymphoblast lines revealed comparable Km values for UDP-galactose and NAD and identical behavior on polyacrylamide electrophoresis. However, a difference in the NAD requirement for heat stability at 40 degree provided some evidence for a structural defect in this enzyme. Possible explanations for the appearance of UDP-galactose 4-epimerase activity in stimulated lymphocytes include an increased rate of synthesis of a mutant enzyme and a derepression of an epimerase locus during lymphocyte transformation.

  • References13
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Mentioned in this Paper

UDP-Glucose 4-Epimerase
Galactose Measurement
GALE gene
Lymphocytes as Percentage of Blood Leukocytes (Lab Test)
Lymphoid Cells
White Blood Cell Count Procedure
Carbohydrate Metabolism, Inborn Errors
Thyroid Hormone Plasma Membrane Transport Defect

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