Abstract
A simple, rapid, and direct method for measuring the activities of the galactokinase and Gal-1-P uridyl transferase enzymes in human erythrocytes is presented. The method has been applied to measurement of enzyme activities in a group of 37 presumably normal persons, 3 patients with galactosemia, 6 known heterozygous carriers of the defect, and 9 relatives of carriers. In every case the test unambiguously identified the individual's status as normal, heterozygotic carrier, or homozygously defective. Use of the test in genetic counseling and genetic epidemological studies is discussed.
Full Text
The Full Text of this article is available as a PDF (436.0 KB).
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- DORMANDY T. L., PORTER R. J. Familial fructose and galactose intolerance. Lancet. 1961 Jun 3;1(7188):1189–1194. doi: 10.1016/s0140-6736(61)91940-7. [DOI] [PubMed] [Google Scholar]
- HUGH-JONES K., NEWCOMB A. L., HSIA D. Y. The genetic mechanism of galactosaemia. Arch Dis Child. 1960 Dec;35:521–528. doi: 10.1136/adc.35.184.521. [DOI] [PMC free article] [PubMed] [Google Scholar]
- ISSELBACHER K. J. A mammalian uridinediphosphate galactose pyrophosphorylase. J Biol Chem. 1958 May;232(1):429–444. [PubMed] [Google Scholar]
- KALCKAR H. M., BRAGANCA B., MUNCH-PETERSEN H. M. Uridyl transferases and the formation of uridine diphosphogalactose. Nature. 1953 Dec 5;172(4388):1038–1038. [PubMed] [Google Scholar]
- KIRKMAN H. N., BYNUM E. Enzymic evidence of a galactosemic trait in parents of galactosemic children. Ann Hum Genet. 1959 Apr;23(2):117–126. doi: 10.1111/j.1469-1809.1958.tb01456.x. [DOI] [PubMed] [Google Scholar]
- Kalckar H. M., Anderson E. P., Isselbacher K. J. GALACTOSEMIA, A CONGENITAL DEFECT IN A NUCLEOTIDE TRANSFERASE: A PRELIMINARY REPORT. Proc Natl Acad Sci U S A. 1956 Feb;42(2):49–51. doi: 10.1073/pnas.42.2.49. [DOI] [PMC free article] [PubMed] [Google Scholar]
- LELOIR L. F. The enzymatic transformation of uridine diphosphate glucose into a galactose derivative. Arch Biochem Biophys. 1951 Sep;33(2):186–190. doi: 10.1016/0003-9861(51)90096-3. [DOI] [PubMed] [Google Scholar]
- MAIO J. J., RICKENBERG H. V. Metabolic block in utilization of galactose by strain L tissue culture cells. Science. 1961 Oct 6;134(3484):1007–1008. doi: 10.1126/science.134.3484.1007. [DOI] [PubMed] [Google Scholar]
- Morse M L, Lederberg E M, Lederberg J. Transduction in Escherichia Coli K-12. Genetics. 1956 Jan;41(1):142–156. doi: 10.1093/genetics/41.1.142. [DOI] [PMC free article] [PubMed] [Google Scholar]
- NORDIN J. H., BRETTHAUER R. K., HANSEN R. G. Development and application of a simplified colorimetric method for detecting carriers of galactosemia. Clin Chim Acta. 1961 Jul;6:578–580. doi: 10.1016/0009-8981(61)90150-4. [DOI] [PubMed] [Google Scholar]
- SCHWARZ V., GOLBERG L., KOMROWER G. M., HOLZEL A. Some disturbances of erythrocyte metabolism in galactosaemia. Biochem J. 1956 Jan;62(1):34–40. doi: 10.1042/bj0620034. [DOI] [PMC free article] [PubMed] [Google Scholar]
- SCHWARZ V. The value of galactose phosphate determinations in the treatment of galactosaemia. Arch Dis Child. 1960 Oct;35:428–432. doi: 10.1136/adc.35.183.428. [DOI] [PMC free article] [PubMed] [Google Scholar]
- SCHWARZ V., WELLS A. R., HOLZEL A., KOMROWER G. M. A study of the genetics of galactosaemia. Ann Hum Genet. 1961 Dec;25:179–188. doi: 10.1111/j.1469-1809.1962.tb01518.x. [DOI] [PubMed] [Google Scholar]
- WALKER F. A., HSIA D. Y., SLATIS H. M., STEINBERG A. G. Galactosemia: a study of twenty-seven kindreds in North America. Ann Hum Genet. 1962 May;25:287–311. doi: 10.1111/j.1469-1809.1962.tb01767.x. [DOI] [PubMed] [Google Scholar]
- WEINBERG A. N. Detection of congenital galactosemia and the carrier state using galactose C14 and blood cells. Metabolism. 1961 Sep;10:728–734. [PubMed] [Google Scholar]