Abstract
A low activity galactose-1-phosphate uridyl transferase (transferase) variant in a newborn infant has been demonstrated by biochemical studies in erythrocytes and cultured skin fibroblasts. The newborn infant was a galactosaemic suspect identified in a neonatal metabolic screening programme. On breast feeding, he did well without clinical symptoms of galactosaemia during the first 15 days of life. However, substantial amounts of erythrocyte galactose-1-phosphate and urinary galactitol corresponding to the levels in untreated galactosaemic patients, along with mild amino aciduria, were found. The transferase activity, as measured by a sensitive micro kinetic radioisotopic method, was about 7–10% of the normal. On starch gel electrophoresis, the enzyme from the haemolysate had similar mobility as the normal in Tris-glycine buffer, pH 8.8 and phosphate buffer, pH 7.0, but had a slower mobility than that of the normal in the histidine buffer, pH 7.8. The mobility difference was much clearer in a semipurified enzyme preparation. The transferase enzyme in the haemolysate appeared to be more heat labile.
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References
Beutler, E. and Baluda, M. C. (1965). A simple spot screening test for galactosemia.J. Lab. Clin. Med.,68, 137
Beutler, E. and Baluda, M. C. (1966). Improved method for measuring galactose-1-phosphate uridyltransferase activity of erythrocytes.Clin. Chim. Acta,13, 369
Beutler, E., Baluda, M. C., Sturgeon, P. and Day, R. (1965). A new genetic abnormality resulting in galactose-1-phosphate uridyltransferase deficiency.Lancet,i, 353
Chacko, C. M., Christian, J. C. and Nadler, H. L. (1971). Unstable galactose-1-phosphate uridyl transferase: a new variant of galactosemia.J. Pediatr.,78, 454
Chacko, C. M., Wappner, R. S., Brandt, I. K. and Nadler, H. L. (1977). The Chicago variant of clinical galactosemia.Hum. Genet.,37, 261
De Bruyn, C. H. M. M., Oei, T. L., Monnens, L. A. H. and Trijbels, J. M. F. (1978). An unusual form of galactosemia: studies on erythrocytes and hair roots.Clin. Genet.,13, 8
Fensom, A. H. and Benson, P. F. (1975). Assay of galactose-1-phosphate uridyl transferase in cultured amniotic cells for prenatal diagnosis of galactosemia.Clin. Chim. Acta,62, 189
Gitzelmann, R. (1969). Estimation of galactose-1-phosphate in erythrocytes: a rapid and simple enzymatic method.Clin. Chim. Acta,26, 313
Hammersen, G., Houghton, S. and Levy, H. L. (1975). Rennes-like variant of galactosemia: clinical and biochemical studies.J. Pediatr.,87, 50
Hsia, D. Y. Y. (1969). In:Galactosemia, p. 124. (Springfield, Ill.: Charles C. Thomas)
Hsia, D. Y. Y. and Walker, F. A. (1961). Variability in the clinical manifestations of galactosemia.J. Pediatr.,59, 872
Isselbacher, K. J., Anderson, E. P., Kurahashi, K. and Kalckar, H. M. (1956). Congenital galactosemia, a single enzymatic block in galactose metabolism.Science,123, 635
Kurahashi, K. and Sugimura, A. (1960). Purification and properties of galactose-1-phosphate uridyl transferase fromEscherichia coli.J. Biol. Chem.,235, 940
Mathai, C. K. and Beutler, E (1966). Electrophoretic variation of galactose-1-phosphate uridyl transferase.Science,154, 1179
Matz, D., Enzenauer, J. and Menne, F. (1975). Über einen Fall von atypischer Galaktosämie.Humangenetik,27, 309
Monk, A. M. and Holton, J. B. (1976). Galactose-1-phosphate uridyl transferase in cultured cells.Clin. Chim. Acta,73, 537
Ng, W. G., Bergren, W. R. and Donnell, G. N. (1964). Galactose-1-phosphate uridyl transferase activity in galactosaemia.Nature,203, 845
Ng, W. G., Donnell, G. N. and Bergren, W. R. (1965). Galactokinase activity in human erythrocytes of individuals at different ages.J. Lab. Clin. Med.,66, 115
Ng, W. G., Bergren, W. R. and Donnell, G. N. (1967). An improved procedure for the assay of hemolysate galactose-1-phosphate uridyl transferase activity by the use of14C labelled galactose-1-phosphate.Clin. Chim. Acta,15, 489
Ng, W. G., Bergren, W. R., Donnell, G. N. and Hodgman, J. E. (1967). Galactose-1-phosphate uridyl transferase activity in hemolysates of newborn infants.Pediatrics,39, 293
Ng, W. G., Bergren, W. R., Fields, M. and Donnell, G. N. (1969). An improved electrophoretic procedure for galactose-1-phosphate uridyl transferase: demonstration of multiple activity bands with the Duarte variant.Biochem. Biophys. Res. Commun.,37, 354
Ng, W. G., Bergren, W. R. and Donnell, G. N. (1973). A new variant of galactose-1-phosphate uridyl transferase in man: the Los Angeles variant.Ann. Hum. Genet.,37, 1
Ng, W. G., Donnell, G. N., Bergren, W. R., Alfi, O. and Golbus, M. S. (1977a). Prenatal diagnosis of galactosemia.Clin. Chim. Acta,74, 227
Ng, W. G., Donnell, G. N. and Alfi, O. (1977b). Prenatal diagnosis of galactosaemia.Lancet,i, 43
Schapira, F. and Kaplan, J. (1969). Electrophoretic abnormality of galactose-1-phosphate uridyl transferase in galactosemia.Biochem. Biophys. Res. Commun.,33, 451
Schwarz, V., Wells, A. R., Holzel, A., Komrower, G. M. and Simpson, I. M. N. (1961). A study of the genetics of galactosemia.Ann. Hum. Genet.,25, 179
Scherz, R., Pflugshaupt, R. and Bütler, R. (1976). A new genetic variant of galactose-1-phosphate uridyl transferase.Hum. Genet.,35, 51
Segal, S. (1969). The Negro variant of congenital galactosemia. In:Galactosemia, pp. 176–85. Springfield, Ill.: Charles C. Thomas
Segal, S., Rogers, S. and Holtzapple, P. G. (1971). Liver galactose-1-phosphate uridyl transferase activity in normal and galactosemic subjects.J. Clin. Invest.,50, 500
Sparkes, M. C., Crist, M. and Sparkes, R. S. (1977). Improved technique for electrophoresis of human galactose-1-phosphate uridyl transferase.Hum. Genet.,40, 93
Tedesco, T. and Mellman, W. J. (1969). Galactose-1-phosphate uridyl transferase and galactokinase activity in cultured human diploid fibroblasts and peripheral blood leukocytes.J. Clin. Invest.,48, 2390
Tedesco, T. A. (1972). Human galactose-1-phosphate uridyl transferase: purification, antibody production, and comparison of the wild type, Duarte variant, and galactosemic gene products.J. Biol. Chem.,247, 6631
Wells, W. W., Chin, T. and Weber, B. (1964). Quantitative analysis of serum and urine sugars by gas chromatography.Clin. Chim. Acta,10, 352
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Ng, W.G., Kline, F., Lin, J. et al. Biochemical studies of a human low-activity galactose-1-phosphate uridyl transferase variant. J Inherit Metab Dis 1, 145–151 (1978). https://doi.org/10.1007/BF01805583
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DOI: https://doi.org/10.1007/BF01805583