Gangliosidoses

The gangliosidoses are a group of inherited metabolic diseases caused by a deficiency of the different proteins needed to break down lipids. Lipids are fatty substances like oils, waxes, steroids, and other compounds that are important parts of the membranes found within and between cells and the myelin layer that coats and protects the nerves.

Abnormal buildup of lipids can cause permanent damage in the cells and tissues in the brain and nervous systems, particularly in nerve cells, and elsewhere in the body (including the liver and spleen). There are two distinct groups of the gangliosidoses that can affect males and females equally.

The GM1 gangliosidoses are caused by a deficiency of the enzyme beta-galactosidase and has three clinical subtypes:

• Early infantile GM1 gangliosidosis is the most severe, with onset shortly after birth. Other complications include liver and spleen enlargement, skeletal irregularities, joint stiffness, and distended abdomen. Children may be deaf and blind by age 1 and often die by age 3 from cardiac complications or pneumonia. Symptoms may include:
  • Nerve function degeneration
  • Seizures
  • Muscle weakness
  • Problems with walking (gait)
  • Cherry-red spots in the eyes
• Late infantile GM1 gangliosidosis is typically noticed between ages 1 to 3 years. Symptoms include an inability to control movement, seizures, dementia, and difficulties with speech.
• An adult form develops between ages 3 and 30. Complications include the wasting away of muscles, cloudiness in the corneas, and dystonia (sustained muscle contractions that case twisting and repetitive movements or abnormal postures). Adult GM1 is usually less severe and progresses more slowly than other forms of the disorder.

The GM2 gangliosidoses include Tay-Sachs disease and its more severe form, Sandhoff disease, both of which result from a deficiency of the enzyme beta-hexosaminidase.

No specific treatment exists for the gangliosidoses. Anticonvulsants may initially control seizures. Other supportive treatment includes proper nutrition, hydration, and keeping the airway open. Restricting one's diet does not prevent lipid buildup in cells and tissues.

How can I or my loved one help improve care for people with gangliodisoses?

Consider participating in a clinical trial so clinicians and scientists can learn more about gangliosidoses and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with gangliosidoses at Clinicaltrials.gov.

Where can I find more information about gangliodisoses?

Information on gangliosidosis may be available from the following resources:

Genetics and Rare Diseases (GARD) Information Center

Hide and Seek Foundation for Lysosomal Storage Disease Research
Phone: 877-621-1122

MedlinePlus

National Organization for Rare Disorders (NORD)
Phone: 203-744-0100

National Tay-Sachs and Allied Diseases Association
Phone: 800-906-8723

Content source: https://www.ninds.nih.gov/health-information/disorders/gangliosidoses Accessed June 23, 2023.

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