Gangliosidosis GM1 Type 3

Common Name(s)

Gangliosidosis GM1 Type 3

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 "Gangliosidosis GM1 Type 3" 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: 15 Apr 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Gangliosidosis GM1 Type 3" 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: 15 Apr 2014

View Details

 

General Support Organizations

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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 "Gangliosidosis GM1 Type 3" returned 2 free, full-text research articles on human participants. First 3 results:

Facial grimacing as a clue for the diagnosis of GM1 type 3 gangliosidosis.
 

Author(s): Ricardo Oliveira Horta Maciel, José Luiz Pedroso, Orlando G P Barsottini

Journal: Arq Neuropsiquiatr. 2011 ;69(2B):406-7.

 

Last Updated: 31 May 2011

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Isolation and characterization of major urinary oligosaccharides excreted by a patient with type 3 GM1 gangliosidosis.
 

Author(s): S Tsuji, T Ariga, S Ando, Y Tanaka, K Kon, T Yahagi, K Ohta, T Miyatake

Journal: J. Biochem.. 1991 May;109(5):722-7.

 

Two major oligosaccharides were isolated from the urine of a patient with type 3 GM1 gangliosidosis. From structural studies including compositional sugar analysis, fast-atom bombardment mass spectrometry, direct-inlet chemical ionization mass spectrometry, methylation analysis, chromium ...

Last Updated: 31 Oct 1991

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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 "Gangliosidosis GM1 Type 3" returned 0 free, full-text review articles on human participants.

 
 
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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

There are currently no open clinical trials for this condition.