Abstract
ATTEMPTS are being made1 to detect the heterozygous state for galactosæmia by means of the uridine diphosphoglucose consumption test on erythrocytes —a test devised by us for the detection of galactosæmia2. This test was designed so as to give a maximum of difference between normal persons and persons having congenital galactosæmia, in which no galactose-1-phosphate uridyl transferase is discernible in erythrocytes3,4. In order to magnify this difference and hence provide an unambiguous proof for the clinician2,3 this reaction mixture is over-incubated. With near-normal activities, the reaction is brought close to the equilibrium point (cf. refs. 2, 4, 5), and the rates measured are obviously not maximum rates. Experiments in which aliquots for uridine diphosphoglucose determination were taken at 5, 10 and 20 min. incubation time designed to give a quantitative expression of maximum rates have also been carried out5. In this work we used the consumption as well as the combined epimerase test2,3, and yet, only in about two-thirds of the specimens did we succeed in obtaining linearity between incubation time and conversion. Accordingly, we believe it even less likely that the unmodified clinical consumption test (in which only one aliquot at 30 min. incubation is drawn) should be able to detect heterozygous carriers. Therefore, as stated previously2,6, we do not recommend the consumption test for the latter purpose.
Similar content being viewed by others
Article PDF
References
Hsia, D. Y. Y., Huang, I., and Driscoll, S. G., Nature, 182. 1389 (1958).
Anderson, E. P., Kalckar, H. M., Kurahashi, K., and Isselbacher, K. J., J. Lab. Clin. Med., 50, 469 (1957).
Maxwell, E. S., Kalckar, H. M., and Bynum, E., J. Lab. Clin. Med., 50, 478 (1957).
Kalckar, H. M., Anderson, E. P., and Isselbacher, K. J., Biochim. Biophys. Acta, 20, 262 (1956).
Kalckar, H. M., and Bynum, E. (unpublished results).
Kalckar, H. M., “Adv. in Enzymol.”, 20, 3 (1958).
Kirkman, H. N. (unpublished results).
Kirkman, H. N., Ann. Human Genetics (in the press).
Kirkman, H. N., and Kalckar, H. M., Ann. N.Y. Acad. Sci., 75, 274 (1958).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
KALCKAR, H. Detection of Carriers in Hereditary Galactosæmia. Nature 183, 1266 (1959). https://doi.org/10.1038/1831266a0
Issue Date:
DOI: https://doi.org/10.1038/1831266a0
Comments
By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.