Gangliosidosis GM 02 B Variant

Contributed byKrish Tangella MD, MBAApr 03, 2018

The topic Gangliosidosis GM 02 B Variant you are seeking is a synonym, or alternative name, or is closely related to the medical condition Tay-Sachs Disease (TSD).

Quick Summary:

Tay-Sachs Disease (TSD) is an enzyme deficiency, or a complete absence of the enzyme called beta-hexosaminidase A, disorder
Gangliosides are fatty acid derivatives that are broken down by the enzyme Hexosaminidase A, in the absence of which, the gangliosides accumulate in the nerve cells of the brain causing brain degeneration
This is caused due to genetic mutation in the HEXA gene on chromosome 15
If both parents are carriers of the defective gene, then a child has a 25% chance of developing the disease. If only one parent passes the defective gene to the child, the child becomes a carrier and remains unaffected; even though they will have the potential to pass on the disorder to their children
There are three types of Tay-Sachs Disease: Infantile (the most common one, in which neurodegeneration sets even as the child is in the womb), Juvenile, and Adult

Please find comprehensive information on Tay-Sachs Disease (TSD) regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

On the Article

Approved by

Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team

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