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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "GM1 gangliosidosis" returned 48 free, full-text research articles on human participants. First 3 results:

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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Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases.
 

Author(s): Umeharu Ohto, Kimihito Usui, Toshinari Ochi, Kenjiro Yuki, Yoshinori Satow, Toshiyuki Shimizu

Journal: J. Biol. Chem.. 2012 Jan;287(3):1801-12.

 

G(M1) gangliosidosis and Morquio B are autosomal recessive lysosomal storage diseases associated with a neurodegenerative disorder or dwarfism and skeletal abnormalities, respectively. These diseases are caused by deficiencies in the lysosomal enzyme β-d-galactosidase (β-Gal), which ...

Last Updated: 16 Jan 2012

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1-Deoxy-D-galactonojirimycins with dansyl capped N-substituents as β-galactosidase inhibitors and potential probes for GM1 gangliosidosis affected cell lines.
 

Author(s): Richard F G Fröhlich, Richard H Furneaux, Don J Mahuran, Robert Saf, Arnold E Stütz, Michael B Tropak, Jacqueline Wicki, Stephen G Withers, Tanja M Wrodnigg

Journal: Carbohydr. Res.. 2011 Sep;346(12):1592-8.

 

Two simple and reliably accessible intermediates, N-carboxypentyl- and N-aminohexyl-1-deoxy-D-galactonojirimycin were employed for the synthesis of a set of terminally N-dansyl substituted derivatives. Reaction of the terminal carboxylic acid of N-carboxypentyl-1-deoxy-D-galactonojirimycin ...

Last Updated: 4 Jul 2011

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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 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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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: 18 Dec 2013

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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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Nervous System Degeneration in Glycosphingolipid Storage Disorders
 

Status: Recruiting

Condition Summary: Gangliosidoses; Gaucher Disease

 

Last Updated: 14 Mar 2014

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