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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How do you compare to others with this condition?

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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 53 free, full-text research articles on human participants. First 3 results:

White matter changes in GM1 gangliosidosis.
 

Author(s): Moni Tuteja, Abdul Mueed Bidchol, Katta Mohan Girisha, Shubha Phadke

Journal: Indian Pediatr. 2015 Feb;52(2):155-6.

 

GM1 gangliosidosis is a disorder due to GLB1 gene mutation.

Last Updated: 18 Feb 2015

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Child neurology: Exaggerated dermal melanocytosis in a hypotonic infant: a harbinger of GM1 gangliosidosis.
 

Author(s): Amy Armstrong-Javors, Catherine J Chu

Journal: Neurology. 2014 Oct;83(17):e166-8.

 

Last Updated: 21 Oct 2014

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[Disease due to lysosomal deposits with differential peculiarities: type II GM1 gangliosidosis].
 

Author(s): Alfonso Amado-Puentes, Óscar Blanco-Barca, M José Coll, M José Sobrido

Journal: Rev Neurol. 2014 Apr;58(8):382-3.

 

Last Updated: 11 Apr 2014

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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 Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Synergistic Enteral Regimen for Treatment of the Gangliosidoses
 

Status: Recruiting

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

 

Last Updated: 19 May 2016

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A Natural History Study of the Gangliosidoses
 

Status: Recruiting

Condition Summary: Tay-Sachs Disease; Sandhoff Disease; Late Onset Tay-Sachs Disease; GM1 Gangliosidosis; GM2 Gangliosidosis

 

Last Updated: 19 May 2016

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Biomarker for GM1/GM2 - Gangliosidoses
 

Status: Recruiting

Condition Summary: Gangliosidosis; GM1-Gangliosidosis; GM2-Gangliosidosis; Hexosaminidase Activator Deficiency; Tay-Sachs Disease, AB Variant; Hexosaminidase A and B Deficiency; Sandhoff Disease

 

Last Updated: 12 Apr 2016

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