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Diseases

Genetic and Rare Diseases Information Center (GARD)

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GM1 gangliosidosis


Other Names for this Disease

  • Beta galactosidase 1 deficiency
  • Beta-galactosidosis
  • GLB 1 deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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How might GM1 gangliosidosis be treated?

There is currently no effective medical treatment for GM1 gangliosidosis.[1] Symptomatic treatment for some of the neurologic signs and symptoms is available, but does not significantly alter the progression of the condition.[2][3] For example, anticonvulsants may initially control seizures. Supportive treatments may include proper nutrition and hydration, and keeping the affected individual's airway open.[4]

Bone marrow transplantation was reportedly successful in an individual with infantile/juvenile GM1 gangliosidosis; however, no long-term benefit was reported. Presymptomatic cord-blood hematopoietic stem-cell transplantation has been advocated by some as a possible treatment due to its success in other lysosomal storage disorders.[1] Active research in the areas of enzyme replacement and gene therapy for the condition is ongoing but has not yet advanced to human trials.[2][3]

Neurologic and orthopedic sequelae may prevent adequate physical activity, but affected individuals may benefit from physical and occupational therapy.[1]

Last updated: 8/6/2012

References
  1. David H. Tegay. GM1 Gangliosidosis. Medscape Reference. March 29, 2012; http://emedicine.medscape.com/article/951637-overview. Accessed 8/6/2012.
  2. Tegay D. GM1 Gangliosidosis. eMedicine. March 29, 2012; http://emedicine.medscape.com/article/951637-overview. Accessed 4/3/2012.
  3. GM1 Gangliosidosis - Infantile. Hide & Seek Foundation for Lysosomal Disease Research. http://www.hideandseek.org/Diseases.html. Accessed 4/3/2012.
  4. NINDS Gangliosidoses Information Page. National Institute of Neurological Disorders and Stroke (NINDS). October 2011; http://www.ninds.nih.gov/disorders/gangliosidoses/Gangliosidoses.htm. Accessed 4/3/2012.


Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied GM1 gangliosidosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
Other Names for this Disease
  • Beta galactosidase 1 deficiency
  • Beta-galactosidosis
  • GLB 1 deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.