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GM1 gangliosidosis type 1
Other Names for this Disease
- Beta galactosidase deficiency type 1
- Gangliosidosis generalized GM1 infantile form
- Gangliosidosis generalized GM1 type 1
- GLB deficiency type 1
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lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. The three types include: classic infantile (type 1), juvenile (type 2), and adult onset or chronic (type 3). Although the three types differ in severity, their features can overlap significantly. Because of this overlap, other researchers believe that GM1 gangliosidosis represents a continuous disease spectrum instead of three distinct types. This condition is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive fashion.GM1 gangliosidosis is an inherited
Last updated: 4/3/2012
- GM1 gangliosidosis. Genetics Home Reference. July 2010; http://ghr.nlm.nih.gov/condition/gm1-gangliosidosis. Accessed 4/3/2012.
- 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 1. This website is maintained by the National Library of Medicine.
- 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.
- The Hide & Seek Foundation for Lysosomal Storage Disease Research provides information about GM1 gangliosidosis. Click on the link to view this information.
In Depth Information
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss GM1 gangliosidosis type 1. Click on the link to go to OMIM and review these resources.
- 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 1. Click on the link to view a sample search on this topic.