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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
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Inheritance

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How is GM1 gangliosidosis inherited?

GM1 gangliosidosis is inherited in an autosomal recessive manner.[1][2] Affected individuals inherit 2 mutated copies of the disease-causing gene, one from each parent. Carrier parents (with 1 normal copy and 1 mutated copy) typically are unaffected and do not have any signs or symptoms of the condition. When 2 carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% risk to not have the condition and not be a carrier.

It is important to note that GM1 gangliosidosis is type-specific within families. This means that individuals with a family history of the condition are generally only at increased risk for the specific type of GM1 gangliosidosis in the family.[2]
Last updated: 8/6/2012

References
  1. Tegay D. GM1 Gangliosidosis. eMedicine. March 29, 2012; http://emedicine.medscape.com/article/951637-overview. Accessed 4/3/2012.
  2. About Gangliosidosis-1 (GM-1). National Tay-Sahs and Allied Diseases Association, Inc.. http://www.ntsad.org/index.php/gm-1-disease. Accessed 4/3/2012.


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.