GM1 gangliosidosis type 3

What causes GM1 gangliosidosis?

All three types of GM1 gangliosidosis are caused by mutations (changes) in the GLB1 gene. This gene gives the body instructions to make an enzyme called beta-galactosidase (β-galactosidase), which plays an important role in the brain. The enzyme resides in compartments within cells called lysosomes, where it helps break down certain molecules, including a substance called GM1 ganglioside. GM1 ganglioside is important for nerve cell function in the brain.

Mutations in the GLB1 gene may lower or eliminate the activity of the β-galactosidase enzyme, keeping GM1 ganglioside from being broken down. As a result, it accumulates to toxic levels in tissues and organs, particularly in the brain. This accumulation leads to the destruction of nerve cells, causing the features of the condition. In general, people with higher enzyme activity levels usually have milder features than those with lower activity levels.

Last updated on 05-01-20

How is GM1 gangliosidosis inherited?

GM1 gangliosidosis is a hereditary condition that is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has:

  • a 25% (1 in 4) chance to be affected
  • a 50% (1 in 2) chance to be an unaffected carrier like each parent
  • a 25% chance to be unaffected and not be a carrier

GM1 gangliosidosis is type-specific within families. This means that people with a family history of the condition are generally only at increased risk for the specific type of GM1 gangliosidosis in the family.

Last updated on 05-01-20

What is GM1 gangliosidosis?

GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive.

Last updated on 05-01-20

What are gangliosidoses?

The gangliosidoses are a group of inherited metabolic diseases caused by a deficiency of the different proteins needed to break down fatty substances called lipids. Excess lipid materials build up to harmful levels in the central and peripheral nervous systems, particularly in nerve cells. These genetically different disorders occur when both parents pass along the same mutated gene that regulates these proteins.

Last updated on 05-01-20

How might GM1 gangliosidosis be treated?

There is currently no effective medical treatment for GM1 gangliosidosis. Symptomatic treatment for some of the neurologic signs and symptoms is available, but does not significantly alter the progression of the condition. For example, anticonvulsants may initially control seizures. Supportive treatments may include proper nutrition and hydration, and keeping the affected individual's airway open.

Bone marrow transplantation was reportedly successful in an individual with infantile/juvenile GM1 gangliosidosis; however, no long-term benefit was reported. Presymptomatic cord-blood hematopoietic stem-cell transplantation has been advocated by some as a possible treatment due to its success in other lysosomal storage disorders. Active research in the areas of enzyme replacement and gene therapy for the condition is ongoing but has not yet advanced to human trials.

Neurologic and orthopedic sequelae may prevent adequate physical activity, but affected individuals may benefit from physical and occupational therapy.

Last updated on 05-01-20

Where To Start

Hide and Seek Foundation for Lysosomal Storage Disease Research

The Hide & Seek Foundation for Lysosomal Storage Disease Research provides information about GM1 gangliosidosis, type 3. Click on the link to view this information.

Last updated on 04-27-20

Name: Metabolic Support UK 5 Hilliards Court Sandpiper Way
Chester Business Park
Chester, CH4 9QP, United Kingdom
Phone: 0845 241 2173 Toll Free: 0800 652 3181 Email: https://www.metabolicsupportuk.org/contact-us Url: https://www.metabolicsupportuk.org
Name: Hide and Seek Foundation for Lysosomal Storage Disease Research 6475 East Pacific Coast Highway Suite 466
Long Beach, CA, 90803 , United States
Toll Free: (844) 762-7672 Email: info@hideandseek.org Url: https://hideandseek.org
Name: National Tay-Sachs and Allied Diseases Association NTSAD 2001 Beacon Street, Suite 204
Boston, MA, 02135 , United States
Toll Free: 800-906-8723 Fax : 617-277-4463 Email: info@ntsad.org Url: https://www.ntsad.org/
Name: Alex The Leukodystrophy Charity Alex TLC 45 Peckham High Street
London, SE15 5EB, United Kingdom
Phone: 020 7701 4388 Email: info@alextlc.org Url: https://www.alextlc.org
Name: Cure GM1 Foundation PO Box 6890
Albany , CA, 94706,
Email: info@curegm1.org Url: https://curegm1.org/

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