Abstract
The galactose tolerance of individuals with mutant genotypes affecting the activities of galactokinase (GALK) and galactose-1-phosphate uridylyltransferase (GALT) was examined. Genotypes studied were heterozygotes for the GALK and GALT forms of galactosemia, the Duarte-variant GALT, and Philadelphia-variant GALK alleles. The measurements used were urinary concentration of galactose during pregnancy in adults and in infants from the newborn period through the first 5 months of life; the rate of elimination of an intravenous infusion of galactose; and slit-lamp examination of the lens for evidence of cataracts. No unusual urinary excretions of galactose were noted in any of the age groups studied. Intravenous galactose tolerance tests were normal in all but two women, a mother and daughter heterozygous for the GALK-deficient form of galactosemia (GALKG/GALKA). Six other GALKG/GALKA subjects had normal tolerance studies. The intrafamilial consistency and interfamilial differences in the galactose tolerance of GALKG/GALKA individuals suggest heterogeneity of the genes responsible for the GALK-deficient form of galactosemia. Although subclinical cataracts were observed in several individuals, their significance relative to the mutant genotype cannot be resolved with the available data.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- DATE J. W. THE EXCRETION OF LACTOSE AND SOME MONOSACCHARIDES DURING PREGNANCY AND LACTATION. Scand J Clin Lab Invest. 1964;16:589–596. doi: 10.3109/00365516409055221. [DOI] [PubMed] [Google Scholar]
- Dahlqvist A., Svenningsen N. W. Galactose in the urine of newborn infants. J Pediatr. 1969 Sep;75(3):454–462. doi: 10.1016/s0022-3476(69)80273-8. [DOI] [PubMed] [Google Scholar]
- HAWORTH J. C., FORD J. D. VARIATION OF THE ORAL GALACTOSE TOLERANCE TEST WITH AGE. J Pediatr. 1963 Aug;63:276–282. doi: 10.1016/s0022-3476(63)80339-x. [DOI] [PubMed] [Google Scholar]
- Hjelm M., Sjölin S. Changes in the elimination rate from blood or intravenously injected galactose during the neonatal period. Scand J Clin Lab Invest Suppl. 1966;92:126–131. [PubMed] [Google Scholar]
- Monteleone J. A., Beutler E., Monteleone P. L., Utz C. L., Casey E. C. Cataracts, galactosuria and hypergalactosemia due to galactokinase deficiency in a child. Studies of a kindred. Am J Med. 1971 Mar;50(3):403–407. doi: 10.1016/0002-9343(71)90230-0. [DOI] [PubMed] [Google Scholar]
- Olambiwonnu N. O., McVie R., Ng W. G., Frasier S. D., Donnell G. N. Galactokinase deficiency in twins: clinical and biochemical studies. Pediatrics. 1974 Mar;53(3):314–318. [PubMed] [Google Scholar]
- Pickering W. R., Howell R. R. Galactokinase deficiency: clinical and biochemical findings in a new kindred. J Pediatr. 1972 Jul;81(1):50–55. doi: 10.1016/s0022-3476(72)80373-1. [DOI] [PubMed] [Google Scholar]
- Tedesco T. A., Bonow R., Miller K., Mellman W. J. Galactokinase: evidence for a new racial polymorphism. Science. 1972 Oct 13;178(4057):176–178. doi: 10.1126/science.178.4057.176. [DOI] [PubMed] [Google Scholar]
- Tedesco T. A., Miller K. L., Rawnsley B. E., Mennuti M. T., Spielman R. S., Mellman W. J. Human erythrocyte galactokinase and galactose-1-phosphate uridylyltransferase: a population survey. Am J Hum Genet. 1975 Nov;27(6):737–747. [PMC free article] [PubMed] [Google Scholar]
- Tedesco T. A., Morrow G., 3rd, Mellman W. J. Normal pregnancy and childbirth in a galactosemic woman. J Pediatr. 1972 Dec;81(6):1159–1161. doi: 10.1016/s0022-3476(72)80253-1. [DOI] [PubMed] [Google Scholar]
- Weser E., Sleisenger M. H. Metabolism of circulating disaccharides in man and the rat. J Clin Invest. 1967 Apr;46(4):499–505. doi: 10.1172/JCI105552. [DOI] [PMC free article] [PubMed] [Google Scholar]