GM1 gangliosidosis

Common Name(s)

GM1 gangliosidosis

GM1 gangliosidosis is an inherited 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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "GM1 gangliosidosis" for support, advocacy or research.

National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

Last Updated: 13 May 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "GM1 gangliosidosis" for support, advocacy or research.

National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

http://www.ntsad.org

Last Updated: 13 May 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "GM1 gangliosidosis" returned 49 free, full-text research articles on human participants. First 3 results:

Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis.
 

Author(s): Fernanda Sperb, Filippo Vairo, Maira Burin, Fabiana Quoos Mayer, Ursula Matte, Roberto Giugliani

Journal: Gene. 2013 Jan;512(1):113-6.

 

GM1 gangliosidosis is a lysosomal disorder caused by β-galactosidase deficiency due to mutations in the GLB1 gene. It is a rare neurodegenerative disorder with an incidence of about 1:100,000-1:200,000 live births worldwide. Here we review GLB1 mutations and clinical features from ...

Last Updated: 12 Nov 2012

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Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy.
 

Author(s): Brigitte A Rigat, Michael B Tropak, Justin Buttner, Ellen Crushell, Daphne Benedict, John W Callahan, Douglas R Martin, Don J Mahuran

Journal: Mol. Genet. Metab.. 2012 Sep;107(1-2):203-12.

 

Deficiencies of lysosomal β-D-galactosidase can result in GM1 gangliosidosis, a severe neurodegenerative disease characterized by massive neuronal storage of GM1 ganglioside in the brain. Currently there are no available therapies that can even slow the progression of this disease. ...

Last Updated: 17 Sep 2012

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Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.
 

Author(s): Tyler Mark Pierson, David A Adams, Thomas Markello, Gretchen Golas, Sandra Yang, Murat Sincan, Dimitre R Simeonov, Karin Fuentes Fajardo, Nancy F Hansen, Praveen F Cherukuri, Pedro Cruz, Jamie K Teer, James C Mullikin, , Cornelius F Boerkoel, William A Gahl, Cynthia J Tifft

Journal: Neurology. 2012 Jul;79(2):123-6.

 

To utilize high-throughput sequencing to determine the etiology of juvenile-onset neurodegeneration in a 19-year-old woman with progressive motor and cognitive decline.

Last Updated: 10 Jul 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "GM1 gangliosidosis" returned 1 free, full-text review articles on human participants. First 3 results:

Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein.
 

Author(s): J W Callahan

Journal: Biochim. Biophys. Acta. 1999 Oct;1455(2-3):85-103.

 

GM1 gangliosidosis and Morquio B disease are distinct disorders both clinically and biochemically yet they arise from the same beta-galactosidase enzyme deficiency. On the other hand, galactosialidosis and sialidosis share common clinical and biochemical features, yet they arise from ...

Last Updated: 8 Dec 1999

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

HSCT for High Risk Inherited Inborn Errors
 

Status: Recruiting

Condition Summary: Adrenoleukodystrophy; Metachromatic Leukodystrophy; Globoid Cell Leukodystrophy; Tay Sachs Disease; Sandhoffs Disease; Wolman Disease; I-Cell Disease; Sanfilippo Syndrome; GM1 Gangliosidosis

 

Last Updated: 8 Jul 2014

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Synergistic Enteral Regimen for Treatment of the Gangliosidoses
 

Status: Recruiting

Condition Summary: GM1 Gangliosidoses; GM2 Gangliosidoses; Tay-Sachs Disease; Sandhoff Disease

 

Last Updated: 5 Mar 2014

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