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MeSH Review

Fabry Disease

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Disease relevance of Fabry Disease


High impact information on Fabry Disease

  • Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy [5].
  • We used a potent inhibitor of glucosylceramide synthase to test whether substrate deprivation could lower globotriaosylceramide levels in alpha-galactosidase A (alpha-gal A) knockout mice, a model of Fabry disease [6].
  • We identified a novel mutation of alpha-Gal A gene in a family with Fabry disease, which converted a tyrosine at codon 365 to a stop and resulted in a truncation of the carboxy (C) terminus by 65 amino acid (AA) residues [7].
  • Southern hybridization analysis of the alpha-galactosidase gene in affected hemizygous males from 130 unrelated families with Fabry disease revealed six with different gene rearrangements and one with an exonic point mutation resulting in the obliteration of an Msp I restriction site [8].
  • No significant elevation of plasma or leukocyte alpha-galactosidase activities above levels in untreated men with Fabry's disease or decrease in the levels of trihexosyl ceramide was observed in either patient [9].

Chemical compound and disease context of Fabry Disease


Biological context of Fabry Disease


Anatomical context of Fabry Disease


Gene context of Fabry Disease


Analytical, diagnostic and therapeutic context of Fabry Disease


  1. Glycosphingolipid accumulation inhibits cholesterol efflux via the ABCA1/apolipoprotein A-I pathway: 1-phenyl-2-decanoylamino-3-morpholino-1-propanol is a novel cholesterol efflux accelerator. Glaros, E.N., Kim, W.S., Quinn, C.M., Wong, J., Gelissen, I., Jessup, W., Garner, B. J. Biol. Chem. (2005) [Pubmed]
  2. Angiokeratoma corporis diffusum (Anderson-Fabry disease) in a single large family in Nova Scotia. Spence, M.W., Clarke, J.T., D'Entremont, D.M., Sapp, G.A., Smith, E.R., Goldbloom, A.L., Davar, G. J. Med. Genet. (1978) [Pubmed]
  3. Allograft loss in renal transplant recipients with Fabry's disease and activated protein C resistance. Friedman, G.S., Wik, D., Silva, L., Abdou, J.C., Meier-Kriesche, H.U., Kaplan, B., Bonomini, L., DeFranco, P., Lyman, N., Mulgaonkar, S., Jacobs, M. Transplantation (2000) [Pubmed]
  4. The role of lipids in nephrosclerosis and glomerulosclerosis. Gröne, E.F., Walli, A.K., Gröne, H.J., Miller, B., Seidel, D. Atherosclerosis (1994) [Pubmed]
  5. Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. Frustaci, A., Chimenti, C., Ricci, R., Natale, L., Russo, M.A., Pieroni, M., Eng, C.M., Desnick, R.J. N. Engl. J. Med. (2001) [Pubmed]
  6. Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation. Abe, A., Gregory, S., Lee, L., Killen, P.D., Brady, R.O., Kulkarni, A., Shayman, J.A. J. Clin. Invest. (2000) [Pubmed]
  7. A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted. Miyamura, N., Araki, E., Matsuda, K., Yoshimura, R., Furukawa, N., Tsuruzoe, K., Shirotani, T., Kishikawa, H., Yamaguchi, K., Shichiri, M. J. Clin. Invest. (1996) [Pubmed]
  8. Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. Bernstein, H.S., Bishop, D.F., Astrin, K.H., Kornreich, R., Eng, C.M., Sakuraba, H., Desnick, R.J. J. Clin. Invest. (1989) [Pubmed]
  9. Failure to correct the metabolic defect by renal allotransplantion in Fabry's disease. Spence, M.W., MacKinnon, K.E., Burgess, J.K., d'Entremont, D.M., Belitsky, P., Lannon, S.G., MacDonald, A.S. Ann. Intern. Med. (1976) [Pubmed]
  10. Histamine flare in Fabry's disease. Walker, F. Neurology (1983) [Pubmed]
  11. Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium. Moon, J.C., Sachdev, B., Elkington, A.G., McKenna, W.J., Mehta, A., Pennell, D.J., Leed, P.J., Elliott, P.M. Eur. Heart J. (2003) [Pubmed]
  12. Chloroquine-induced phospholipidosis of the kidney mimicking Fabry's disease. Linthorst, G.E., Hollak, C.E. Hum. Pathol. (2003) [Pubmed]
  13. Immunohistochemical localization of glycosphingolipid in urinary renal tubular cells in Fabry's disease. Chatterjee, S., Gupta, P., Pyeritz, R.E., Kwiterovich, P.O. Am. J. Clin. Pathol. (1984) [Pubmed]
  14. Production in yeast of alpha-galactosidase A, a lysosomal enzyme applicable to enzyme replacement therapy for Fabry disease. Chiba, Y., Sakuraba, H., Kotani, M., Kase, R., Kobayashi, K., Takeuchi, M., Ogasawara, S., Maruyama, Y., Nakajima, T., Takaoka, Y., Jigami, Y. Glycobiology (2002) [Pubmed]
  15. Fabry disease: detection of 13-bp deletion in alpha-galactosidase A gene and its application to gene diagnosis of heterozygotes. Ishii, S., Sakuraba, H., Shimmoto, M., Minamikawa-Tachino, R., Suzuki, T., Suzuki, Y. Ann. Neurol. (1991) [Pubmed]
  16. Fabry disease in mice is associated with age-dependent susceptibility to vascular thrombosis. Eitzman, D.T., Bodary, P.F., Shen, Y., Khairallah, C.G., Wild, S.R., Abe, A., Shaffer-Hartman, J., Shayman, J.A. J. Am. Soc. Nephrol. (2003) [Pubmed]
  17. Retroviral coexpression of a multidrug resistance gene (MDR1) and human alpha-galactosidase A for gene therapy of Fabry disease. Sugimoto, Y., Aksentijevich, I., Murray, G.J., Brady, R.O., Pastan, I., Gottesman, M.M. Hum. Gene Ther. (1995) [Pubmed]
  18. Effect of vitamin E and ticlopidine on platelet aggregation in Fabry's disease. Sakuraba, H., Igarashi, T., Shibata, T., Suzuki, Y. Clin. Genet. (1987) [Pubmed]
  19. Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease. Okumiya, T., Ishii, S., Takenaka, T., Kase, R., Kamei, S., Sakuraba, H., Suzuki, Y. Biochem. Biophys. Res. Commun. (1995) [Pubmed]
  20. Preselective gene therapy for Fabry disease. Qin, G., Takenaka, T., Telsch, K., Kelley, L., Howard, T., Levade, T., Deans, R., Howard, B.H., Malech, H.L., Brady, R.O., Medin, J.A. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  21. High prevalence of subclinical hypothyroidism in patients with Anderson-Fabry disease. Hauser, A.C., Gessl, A., Lorenz, M., Voigtländer, T., Födinger, M., Sunder-Plassmann, G. J. Inherit. Metab. Dis. (2005) [Pubmed]
  22. Granulomatous gingivitis in Anderson-Fabry disease. Young, W.G., Pihlstrom, B.L., Sauk, J.J. J. Periodontol. (1980) [Pubmed]
  23. The effect of phlebotomy as a treatment of Fabry disease. Beutler, E., Westwood, B., Dale, G.L. Biochemical medicine. (1983) [Pubmed]
  24. Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci. Oeltjen, J.C., Liu, X., Lu, J., Allen, R.C., Muzny, D., Belmont, J.W., Gibbs, R.A. Mamm. Genome (1995) [Pubmed]
  25. Endothelial nitric oxide synthase gene polymorphisms in Fabry's disease. Heltianu, C., Costache, G., Azibi, K., Poenaru, L., Simionescu, M. Clin. Genet. (2002) [Pubmed]
  26. Fabry disease: 20 novel GLA mutations in 35 families. Blaydon, D., Hill, J., Winchester, B. Hum. Mutat. (2001) [Pubmed]
  27. Hypertrophic obstructive cardiomyopathy due to Fabry's disease. Colucci, W.S., Lorell, B.H., Schoen, F.J., Warhol, M.J., Grossman, W. N. Engl. J. Med. (1982) [Pubmed]
  28. Letter: Occurrence of celiac sprue in a patient with Fabry's disease. Halsted, C.H., Rowe, J.W. Ann. Intern. Med. (1975) [Pubmed]
  29. Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone. Kirkilionis, A.J., Riddell, D.C., Spence, M.W., Fenwick, R.G. J. Med. Genet. (1991) [Pubmed]
  30. Enzyme replacement therapy in Fabry disease. Brady, R.O., Murray, G.J., Moore, D.F., Schiffmann, R. J. Inherit. Metab. Dis. (2001) [Pubmed]
  31. Successful pregnancy outcome in a patient with Fabry disease receiving enzyme replacement therapy with agalsidase alfa. Wendt, S., Whybra, C., Kampmann, C., Teichmann, E., Beck, M. J. Inherit. Metab. Dis. (2005) [Pubmed]
  32. Several functional and fluorescein fundus angiographic findings in Fabry's disease. Ohkubo, H. Ophthalmologica (1988) [Pubmed]
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