The Philadelphia variant of galactokinase: impaired [1-14C]galactose oxidation by intact erythrocytes

Clinica Chimica Acta; International Journal of Clinical Chemistry
T SoniA Lemonnier

Abstract

Probands with the Philadelphia variant of galactokinase (GALKP) are black people who exhibit reduced galactokinase (GALK) activity in their red blood cells (RBC), but normal activity in their white blood cells (WBC). This reduced RBC GALK was demonstrated in disrupted erythrocytes. To investigate the possibility of a missing cofactor in hemolysates from individuals with GALKP phenotype, we compared [1-14C]galactose oxidation by intact erythrocytes, with the direct GALK assay in disrupted erythrocytes. The rate of [1-14C]glucose oxidation was also measured in order to differentiate an impaired galactose metabolism from a defect further along the pentose phosphate pathway. A good correlation (p less than 0.001) was found between the direct GALK assay and [1-14C]galactose oxidation in control subjects, which indicates that this method can be used effectively for the detection of GALK defects. This was further supported by studies on samples from heterozygotes and homozygotes for the GALKG deficient gene. For all the probands with a GALKP phenotype, diminished CO2 production from galactose was observed in the absence of impaired glucose metabolism. This allowed us to confirm the existence of a GALK deficiency in intact erythrocytes...Continue Reading

References

Jan 3, 1977·Clinica Chimica Acta; International Journal of Clinical Chemistry·Y S Shin-BuehringJ Schaub
May 1, 1986·Archives of Disease in Childhood·M BrivetJ L Dufier
May 30, 1973·Clinica Chimica Acta; International Journal of Clinical Chemistry·U WendelH W Rüdiger
Oct 13, 1972·Science·T A TedescoW J Mellman

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Citations

Jun 30, 1988·Clinica Chimica Acta; International Journal of Clinical Chemistry·T SoniA Lemonnier

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