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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
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Disease relevance of Galactosemias


High impact information on Galactosemias


Chemical compound and disease context of Galactosemias


Biological context of Galactosemias

  • An outstanding question relates to the response of AR gene expression to diet-induced galactosemia in extrarenal tissues [15].
  • We conclude that the codon change N314D in cis with the base-pair transition 1721C-->T produces the LA variant of galactosemia and that this nucleotide change increases GALT activity by increasing GALT protein abundance without increasing transcription or decreasing thermal lability [16].
  • Thus, it appears that extracellular matrix changes in chronic galactosemia are complex, being partly attributable to advanced glycosylation and partly to polyol-pathway activation [17].
  • The structure of galactokinase described here serves as a model for understanding the functional consequences of point mutations known to result in Type II galactosemia in humans [18].
  • To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE) [19].

Anatomical context of Galactosemias


Gene context of Galactosemias


Analytical, diagnostic and therapeutic context of Galactosemias


  1. Proton magnetic resonance spectroscopy of brain metabolites in galactosemia. Wang, Z.J., Berry, G.T., Dreha, S.F., Zhao, H., Segal, S., Zimmerman, R.A. Ann. Neurol. (2001) [Pubmed]
  2. Abnormalities of retinal metabolism in diabetes or experimental galactosemia: V. Relationship between protein kinase C and ATPases. Kowluru, R.A., Jirousek, M.R., Stramm, L., Farid, N., Engerman, R.L., Kern, T.S. Diabetes (1998) [Pubmed]
  3. Galactose and galactitol in the urine of children with compound heterozygosity for Duarte variant and classical galactosemia (GtD/gt) after an oral galactose load. Schwarz, H.P., Schaefer, T., Bachmann, C. Clin. Chem. (1985) [Pubmed]
  4. Delta 4-3-oxosteroid 5 beta-reductase deficiency causing neonatal liver failure and hemochromatosis. Shneider, B.L., Setchell, K.D., Whitington, P.F., Neilson, K.A., Suchy, F.J. J. Pediatr. (1994) [Pubmed]
  5. Safety of soy-based infant formulas containing isoflavones: the clinical evidence. Merritt, R.J., Jenks, B.H. J. Nutr. (2004) [Pubmed]
  6. Hypergonadotropic hypogonadism in female patients with galactosemia. Kaufman, F.R., Kogut, M.D., Donnell, G.N., Goebelsmann, U., March, C., Koch, R. N. Engl. J. Med. (1981) [Pubmed]
  7. Retinal capillaries: basement membrane thickening by galactosemia prevented with aldose reductase inhibitor. Robison, W.G., Kador, P.F., Kinoshita, J.H. Science (1983) [Pubmed]
  8. Reduction in oocyte number following prenatal exposure to a diet high in galactose. Chen, Y.T., Mattison, D.R., Feigenbaum, L., Fukui, H., Schulman, J.D. Science (1981) [Pubmed]
  9. Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency. Tedesco, T.A., Miller, K.L. Science (1979) [Pubmed]
  10. NIH conference. Aldose reductase and complications of diabetes. Cogan, D.G., Kinoshita, J.H., Kador, P.F., Robison, G., Datilis, M.B., Cobo, L.M., Kupfer, C. Ann. Intern. Med. (1984) [Pubmed]
  11. Epimerase-deficiency galactosemia is not a binary condition. Openo, K.K., Schulz, J.M., Vargas, C.A., Orton, C.S., Epstein, M.P., Schnur, R.E., Scaglia, F., Berry, G.T., Gottesman, G.S., Ficicioglu, C., Slonim, A.E., Schroer, R.J., Yu, C., Rangel, V.E., Keenan, J., Lamance, K., Fridovich-Keil, J.L. Am. J. Hum. Genet. (2006) [Pubmed]
  12. Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. Reichardt, J.K., Packman, S., Woo, S.L. Am. J. Hum. Genet. (1991) [Pubmed]
  13. Suppression of pentosidine formation in galactosemic rat lens by an inhibitor of aldose reductase. Nagaraj, R.H., Prabhakaram, M., Ortwerth, B.J., Monnier, V.M. Diabetes (1994) [Pubmed]
  14. Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency. Feillet, F., Merten, M., Battaglia-Hsu, S.F., Rabier, D., Kobayashi, K., Straczek, J., Brivet, M., Favre, E., Guéant, J.L. J. Hepatol. (2008) [Pubmed]
  15. Effects of galactose feeding on aldose reductase gene expression. Wu, R.R., Lyons, P.A., Wang, A., Sainsbury, A.J., Chung, S., Palmer, T.N. J. Clin. Invest. (1993) [Pubmed]
  16. Molecular basis for Duarte and Los Angeles variant galactosemia. Langley, S.D., Lai, K., Dembure, P.P., Hjelm, L.N., Elsas, L.J. Am. J. Hum. Genet. (1997) [Pubmed]
  17. Tissue-specific effects of aldose reductase inhibition on fluorescence and cross-linking of extracellular matrix in chronic galactosemia. Relationship to pentosidine cross-links. Richard, S., Tamas, C., Sell, D.R., Monnier, V.M. Diabetes (1991) [Pubmed]
  18. Molecular structure of galactokinase. Thoden, J.B., Holden, H.M. J. Biol. Chem. (2003) [Pubmed]
  19. Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. Greber-Platzer, S., Guldberg, P., Scheibenreiter, S., Item, C., Schuller, E., Patel, N., Strobl, W. Hum. Mutat. (1997) [Pubmed]
  20. Human erythrocyte galactokinase and galactose-1-phosphate uridylyltransferase: a population survey. Tedesco, T.A., Miller, K.L., Rawnsley, B.E., Mennuti, M.T., Spielman, R.S., Mellman, W.J. Am. J. Hum. Genet. (1975) [Pubmed]
  21. Selection and analysis of galactose metabolic pathway variants of a mouse liver cell line. Zaret, K.S., Stevens, K.A. Mol. Cell. Biol. (1990) [Pubmed]
  22. Effect of galactose diet removal on the progression of retinal vessel changes in galactose-fed dogs. Kador, P.F., Takahashi, Y., Akagi, Y., Neuenschwander, H., Greentree, W., Lackner, P., Blessing, K., Wyman, M. Invest. Ophthalmol. Vis. Sci. (2002) [Pubmed]
  23. Screening for erros in galactose metabolism with the erythrocyte. Rabinow, B.E., Wong, P.W., Maschgan, E.R., Natelson, S. Clin. Chem. (1976) [Pubmed]
  24. Stable isotope dilution analysis of galactitol in amniotic fluid: an accurate approach to the prenatal diagnosis of galactosemia. Jakobs, C., Warner, T.G., Sweetman, L., Nyhan, W.L. Pediatr. Res. (1984) [Pubmed]
  25. Substrate specificity and mechanism from the structure of Pyrococcus furiosus galactokinase. Hartley, A., Glynn, S.E., Barynin, V., Baker, P.J., Sedelnikova, S.E., Verhees, C., de Geus, D., van der Oost, J., Timson, D.J., Reece, R.J., Rice, D.W. J. Mol. Biol. (2004) [Pubmed]
  26. Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia. Wohlers, T.M., Christacos, N.C., Harreman, M.T., Fridovich-Keil, J.L. Am. J. Hum. Genet. (1999) [Pubmed]
  27. Molecular structure of human galactokinase: implications for type II galactosemia. Thoden, J.B., Timson, D.J., Reece, R.J., Holden, H.M. J. Biol. Chem. (2005) [Pubmed]
  28. Functional consequence of substitutions at residue 171 in human galactose-1-phosphate uridylyltransferase. Crews, C., Wilkinson, K.D., Wells, L., Perkins, C., Fridovich-Keil, J.L. J. Biol. Chem. (2000) [Pubmed]
  29. Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: a retrospective study. Jensen, U.G., Brandt, N.J., Christensen, E., Skovby, F., Nørgaard-Pedersen, B., Simonsen, H. Clin. Chem. (2001) [Pubmed]
  30. Newborn screening for galactosemia: a new method used in Manitoba. Greenberg, C.R., Dilling, L.A., Thompson, R., Ford, J.D., Seargeant, L.E., Haworth, J.C. Pediatrics (1989) [Pubmed]
  31. Pitfalls in diagnosing galactosemia: false negative newborn screening following red blood cell transfusion. Sokol, R.J., McCabe, E.R., Kotzer, A.M., Langendoerfer, S.I. J. Pediatr. Gastroenterol. Nutr. (1989) [Pubmed]
  32. Molecular basis of disorders of human galactose metabolism: past, present, and future. Novelli, G., Reichardt, J.K. Mol. Genet. Metab. (2000) [Pubmed]
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