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Diseases

Genetic and Rare Diseases Information Center (GARD)

Galactosialidosis


Other Names for this Disease
  • Goldberg syndrome
  • Neuraminidase deficiency with beta-galactosidase deficiency
  • Lysosomal protective protein deficiency of
  • Protective protein/Cathepsin A deficiency
  • Cathepsin A deficiency of
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Treatment

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How might galactosialidosis be treated?

There is no cure for galactosialidosis. Treatment is symptomatic and supportive; for example, taking medication to control seizures. Individuals with galactosialidosis are encouraged to routinely see their genetic counselors, neurological, ophthalmological, and other specialists as symptoms arise and to keep symptoms controlled. Bone marrow transplant is under investigation as an experimental therapy.[1][2] No conclusive results are currently available regarding the long term benefits of this treatment.[2]
Last updated: 5/16/2011

References
  1. Galactosialidosis. Hide & Seek Foundation for Lysosomal Disease Research. http://www.hideandseek.org/index.php?option=com_content&task=view&id=121&Itemid=75. Accessed 5/16/2011.
  2. Galactosialidosis. The International Advocate for Glycoprotein Storage Diseases (ISMRD). http://www.ismrd.org/the_diseases/galactosialidosis. Accessed 5/16/2011.


Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Galactosialidosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
Other Names for this Disease
  • Goldberg syndrome
  • Neuraminidase deficiency with beta-galactosidase deficiency
  • Lysosomal protective protein deficiency of
  • Protective protein/Cathepsin A deficiency
  • Cathepsin A deficiency of
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.