GM2 gangliosidosis
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What is GM2 gangliosidosis
An overview of GM2 gangliosidosis
The GM2 gangliosidoses are a group of related genetic disorders that result from a deficiency of the enzyme beta-hexosaminidase. This enzyme catalyzes the biodegradation of fatty acid derivatives known as gangliosides. The diseases are better known by their individual names. Tay–Sachs and Sandhoff disease are rare and between two and six children a year are born with the diseases in the UK. However, 1 in 300 people are carriers of the genes which cause either Tay-Sachs or Sandhoff disease.
Unfortunately there is no cure or treatment currently available for Tay-Sachs and Sandhoff. The research team investigating the diseases are very close to finding an effective treatment and this gives some hope to families.
To find out more about Tay-Sachs and Sandhoff you can watch the video below or click on the individual pages we have prepared for each disease.