Definition:
Infantile/GM1 Gangliosidosis is caused by a deficiency in the enzyme acid, beta-galactosidase-1, and results in the accumulation of ganglioside in the tissues. This disorder affects the cells of the central and peripheral nervous systems, but particularly the nerve cells. There are three types of GM1 Gangliosidosis, each characterized by the age of onset. The three types are: early infantile, late infantile and adult. Early infantile GM1 Gangliosidosis is the most severe of the three forms.

The Gypsy population, specifically of Roman descent has a 2% carrier rate of the mutated gene that causes GM1 Gangliosidosis.

Symptoms:
Symptoms of early infantile GM1 Gangliosidosis begin to appear just following birth. There are many varied symptoms of this form. They are: seizures, liver and spleen enlargement, nerve degeneration, skeletal abnormalities, coarse facial features, distended abdomen, sensitivity to sound and problems walking. Half of those affected may also develop a red spot in their eyes.

Life Expectancy:
Life expectancy for early infantile GM1 Gangliosidosis is between one and two years of age.

Inheritance Pattern:
GM1 Gangliosidosis is an autosomal recessive disorder.

Diagnosis and Testing:
An enzyme assay using blood or skin specimens is performed to confirm a diagnosis of GM1 Gangliosidosis. This test measures the amount of the enzyme acid beta-galactosidase-1 and compares it to normal enzyme activity levels. If this disorder is present, low levels of this enzyme will be present.

Treatment:
Currently, there is no treatment for GM1 Gangliosidosis. Bone marrow transplants have been met with limited success in reducing the progression of the disorder, but no long-term benefits were seen. Palliative treatment has been used to reduce some of the neurologic symptoms associated with this disorder. Gene therapy and enzyme replacement therapy are two treatments that are currently under investigation as a hope to cure GM1 Gangliosidosis.

Patient Groups:
National Tay-Sachs & Allied Diseases Association
2001 Beacon Street, Suite 204
Boston, MA 02135
www.ntsad.org
tel: (800) 906-8723
fax: (617) 277-0134
Sue R. Kahn, Executive Director
info@ntsad.org