GM1 gangliosidosis type 2

Common Name(s)

GM1 gangliosidosis type 2, Juvenile GM1 gangliosidosis, GM1 gangliosidosis type II, Gangliosidosis generalized GM1 type 2

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 type 2" 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 type 2" 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 type 2" returned 4 free, full-text research articles on human participants. First 3 results:

Urinary oligosaccharides of GM1-gangliosidosis. Structures of oligosaccharides excreted in the urine of type 1 but not in the urine of type 2 patients.
 

Author(s): T Ohkura, K Yamashita, A Kobata

Journal: J. Biol. Chem.. 1981 Aug;256(16):8485-90.

 

Among the seven oligosaccharide fractions obtained by Bio-Gel P-4 column chromatography of urine of GM1-gangliosidosis Type 1 patients, three fractions (peaks V, VI, and VII) were completely missing in the urine of GM1-gangliosidosis Type 2 patients. Structural study of these oligosaccharide ...

Last Updated: 25 Oct 1981

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Urinary oligosaccharides of GM1-gangliosidosis. Different excretion patterns of oligosaccharides in the urine of type 1 and type 2 subgroups.
 

Author(s): K Yamashita, T Ohkura, S Okada, H Yabuuchi, A Kobata

Journal: J. Biol. Chem.. 1981 May;256(10):4789-98.

 

Oligosaccharide patterns obtained by gel filtration of the urine of GM1-gangliosidosis Type 1 patients are quite different from those of GM1-gangliosidosis Type 2. By studies of oligosaccharides in the four major peaks obtained from the Type 1 subgroup using sequential exoglycosidase ...

Last Updated: 20 Jul 1981

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A variant of GM1-gangliosidosis type 2 and enzymic differences between GM1-gangliosidosis types 1 and 2.
 

Author(s): T Orii, K Sukegawa, T Nakao

Journal: Tohoku J. Exp. Med.. 1975 Sep;117(1):99-100.

 

A patient considered to represent a variant of GM1-gangliosidosis type 2 is described. Enzymic differences between the two clinical types 1 and 2 in GM1-gangliosidosis could be detected by Sephadex gel filtration procedure.

Last Updated: 29 Jan 1976

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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 type 2" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Longitudinal Study of Neurodegenerative Disorders
 

Status: Recruiting

Condition Summary: MLD; Krabbe Disease; ALD; MPS I; MPS II; MPS III; Vanishing White Matter Disease; GM3 Gangliosidosis; PKAN; Tay-Sachs Disease; NP Deficiency; Osteopetrosis; Alpha-Mannosidosis; Sandhoff Disease; Niemann-Pick Diseases; MPS IV; Gaucher Disease; GAN; GM1 Gangliosidoses; Morquio Disease; S-Adenosylhomocysteine Hydrolase Deficiency; Batten Disease; Pelizaeus-Merzbacher Disease; Leukodystrophy; Lysosomal Storage Diseases; Purine Nucleoside Phosphorylase Deficiency; Multiple Sulfatase Deficiency Disease

 

Last Updated: 3 Nov 2017

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