GM1 Gangliosidosis is a type of Lysosomal Storage Disorder which mainly affects the nervous system. Skeletal abnormalities are also seen in people having this disorder. The body cannot produce enough of the enzyme β-D-galactosidase and hence this condition results in the accumulation of the substrate such as ganglioside in the cell (lysosomes).
What is GM1 Gangliosidosis?
GM1 Gangliosidosis is a type of Lysosomal Storage Disorder which mainly affects the nervous system. Skeletal abnormalities are also seen in people having
this disorder. The body cannot produce enough of the enzyme β-D-galactosidase and hence this condition results in the accumulation of the substrate such as
ganglioside in the cell (lysosomes).
What are the symptoms of GM1 gangliosidosis?
Based on the symptoms and age of occurrence, there are three different clinical forms of GM1 gangliosidosis
1) Type I or Infantile form - starts within 6 months after birth. The typical symptoms include deterioration of central nervous system, swelling of liver
and spleen organs, cherry red spots of the eye, facial and skeletal abnormalities
2) Type II or late infantile or juvenile form - starts between 7months to 3 years. The typical symptoms include seizures, weakness of the muscles and motor
3) Type III or adult form – starts between 3 years to 30 years. The typical symptoms include involuntary muscle contractions, slurred speech and short
What gene is related to GM1 gangliosidosis?
Mutations in the galactosidase beta 1 gene (GLB1) cause GM1 gangliosidosis. This gene provides instructions for producing the enzyme
β-D-galactosidase which helps in the breakdown of substance called GM1 ganglioside.
What are the tests and diagnosis available for this disorder?
Clinical diagnosis can be confirmed by measurement of enzyme activity β-D-galactosidase in the blood (white blood cells).
Molecular analysis of the galactosidase beta 1 gene (GLB1) can be performed and is clinically available.
Besides the above tests, prenatal diagnosis is possible and the test is offered to couples with known history.
What kind of treatment can be provided to people suffering from this disorder?
There is no effective drug therapy for this disorder at present. Quality of life can be optimised by adequate care provided by medical specialists and
Which are the different support groups or organizations to contact for further information
The Department of Health Research and Indian Council of Medical Research have
constituted a National Task Force to perform a multicentric collaborative study
at different research institutes across the country.
What are the best possible ways to prevent and control the condition?
Genetic counselling is offered and recommended for couples with a known family history of GM1 gangliosidosis. Counselling can also help the couple who are
planning to have children understand the genetic risk, carrier status and the importance of performing prenatal testing before pregnancy. Prenatal testing
may be an option that a couple may wish to consider. Counselling can also be provided to affected families. This can help the affected families understand
the condition and provide possible strategies to deal with the condition.
When to contact a Medical Professional?
The physician can be contacted if symptoms of GM1 gangliosidosis occur.