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

Abstract

Stimulation with phytohemagglutinin of the leukocytes from six of the seven known individuals with UDP-galactose 4-epimerase (= UDP-glucose 4-epimerase; EC 5.1.3.2) 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
  • Citations10

References

Mentioned in this Paper

UDP-Glucose 4-Epimerase
Galactosemias
Galactose Measurement
GALE
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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