GM1 gangliosidosis type 2
Other Names for this Disease
- Gangliosidosis generalized GM1 type 2
- Gangliosidosis generalized GM1 juvenile type
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lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive.GM1 gangliosidosis is an inherited
Last updated: 11/17/2015
- GM1 gangliosidosis. Genetics Home Reference. July 2010; http://ghr.nlm.nih.gov/condition/gm1-gangliosidosis. Accessed 4/3/2012.
- Anna Caciotto, Maria Alice Donati, and Amelia Morrone. GM1 Gangliosidosis. Orphanet. May, 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354.
- The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
- Genetics Home Reference (GHR) contains information on GM1 gangliosidosis type 2. This website is maintained by the National Library of Medicine.
- The Hide & Seek Foundation for Lysosomal Storage Disease Research provides information about GM1 gangliosidosis. Click on the link to view this information.
- The Hide & Seek Foundation for Lysosomal Storage Disease Research provides information about GM1 gangliosidosis, type 2. Click on the link to view this information.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Tay-Sachs and Allied Diseases Association, Inc. provides information about GM1 gangliosidosis. Click on the link to access this information.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss GM1 gangliosidosis type 2. Click on the link to view a sample search on this topic.