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The Chicago variant of clinical galactosemia

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Summary

A new variant of clinical galactosemia with two hitherto unidentified alleles on the transferase locus in one family is described. This new clinical variant of transferase has 25% of normal control activity in blood and in skin fibroblasts, and the patient accumulates galactose-1-phosphate in blood on an unrestricted galactose diet. Using starch gel electrophoresis on the hemolysate of the family members, a fast-moving transferase with mobility in between those of the normal control and of the Duarte variant is identified. This new allele is designated as \(GALT^{C_1 } \) (fast-moving Chicago variant). In addition, a second new allele was documented in this family by studying the instability of the transferase enzyme in hemolysates of family members at 50°C for various time intervals. This new allele is designated as \(GALT^{C_2 } \) (heat-labile Chicago variant). On the basis of the studies, the transferase genotype of this patients is thought to be a double heterozygote compound, \(GALT^{C_1 } \)/GALTG.

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References

  1. Beutler, E., Baluda, M. C.: A simple spot screening for galactosemia. J. Lab. Clin. Med. 68, 137–141 (1966)

  2. Beutler, E., Baluda, M. C., Sturgeon, P., Day, R.: A new genetic abnormality resulting in galactose-1-phosphate uridyl transferase deficiency. Lancet 1965I, 353–354

  3. Beutler, E., Mathai, C. K.: Genetic variations in red cell galactose-1-phosphate uridyl transferase. Reprinted from: Hereditary Disorders of Erythrocyte Metabolism, pp. 66–86. New York: Grune and Stratton 1968

  4. Chacko, C. M., Christian, J. C., Nadler, H. L.: Unstable galactose-1-phosphate uridyl transferase. A new variant of galactosemia. J. Pediatr. 78, 454–460 (1971)

  5. Donnell, G. N., Collado, M., Koch, R.: Growth and development of children with galactosemia. J. Pediatr. 58, 836–844 (1961)

  6. Hammersen, G., Mandell, R., Levy, H.: Galactose-1-phosphate uridyl transferase in fibroblasts: Isozymes in normal and variant states. Ann. Hum. Genet. 39, 147–150 (1975)

  7. Holzel, A.: Galactosemia. Br. Med. Bull. 17, 213–216 (1961)

  8. Holzel, A., Komrower, G. M.: A study of the genetics of galactosemia. Arch. Dis. Child. 30, 155–159 (1955)

  9. Hsia, D. Y.-Y., Walker, F. A.: Variability in the clinical manifestations of galactosemia. J. Pediatr. 59, 872–883 (1961)

  10. Kalckar, H. M., Anderson, E. P., Isselbacher, K. J.: Galactosemia, A congenital defect in a nucleotide transferase. Biochim. Biophys. Acta 20, 262–268 (1956)

  11. Mathai, C. K., Beutler, E.: Electrophoretic variations of galactose-1-phosphate uridyl transferase. Science 154, 1179–1180 (1966)

  12. Nadler, H. L., Chacko, C. M., Rachmeler, M.: Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity. Proc. Natl. Acad. Sci. USA 67, 976–982 (1970)

  13. Nadler, H. L., Inouye, T., Hsia, D. Y.-Y.: Classical galactosemia: A study of fifty-five cases. In: Galactosemia. D. Y.-Y. Hsia, Ed., pp. 127–139. Springfield: Charles C. Thomas Publ. 1969

  14. Ng, W. G., Bergren, W. R., Donnell, G. N.: A new variant of galactose-1-phosphate uridyl transferase in man: The Los Angeles variant. Ann. Hum. Genet. 37, 1–8 (1973)

  15. Schapira, F., Kaplan, J. C.: Electrophoretic abnormality of galactose-1-phosphate uridyl transferase in galactosemia. Biochem. Biophys. Res. Commun. 35, 451–455 (1969)

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Correspondence to Henry L. Nadler.

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Chacko, C.M., Wappner, R.S., Brandt, I.K. et al. The Chicago variant of clinical galactosemia. Hum Genet 37, 261–270 (1977). https://doi.org/10.1007/BF00393607

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Keywords

  • Starch
  • Internal Medicine
  • Family Member
  • Normal Control
  • Metabolic Disease