Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Beta galactosidase 1 deficiency
  • GLB 1 deficiency
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Home > Rare Diseases and Related Terms > Gangliosidosis generalized GM1 type 1

Gangliosidosis generalized GM1 type 1
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GM1 gangliosidosis is a lysosomal storage disorder characterized by the generalized accumulation of GM1 ganglioside, oligosaccharides, and the mucopolysaccharide keratan sulfate (and their derivatives).[2] GM1 gangliosidosisis is caused by a deficiency of beta-galactosidase, which leads to the above-mentioned accumulation of gangliosides within specific tissues of the body.[1][3] This disorder causes progressive neurological damage and is inherited in an autosomal recessive fashion. There are three types of GM1 gangliosidosis: classic infantile (type 1), juvenile (type 2), and late (adult) onset or chronic (type 3).[1][2][3]  

References
  1. NINDS Gangliosidoses Information Page. National Institute of Neurological Disorders and Stroke (NINDS). August 13, 2008 Available at: http://www.ninds.nih.gov/disorders/gangliosidoses/Gangliosidoses.htm. Accessed January 30, 2009.
  2. Tegay D, Fallet S. GM1 Gangliosidosis. eMedicine. April 18, 2006 Available at: http://emedicine.medscape.com/article/951637-overview. Accessed January 30, 2009.
  3. Related Diseases: GM-1. National Tay-Sahs and Allied Diseases Association, Inc.. Available at: http://www.ntsad.org/S02/S02gm-1.htm. Accessed January 30, 2009.

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