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The Chicago variant of clinical galactosemia

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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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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).

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