GM2 gangliosidosis, AB variant

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GM2 gangliosidosis, AB variant

Synonyms: Hexosaminidase activator deficiency

GM2 gangliosidosis AB variant is an extremely rare severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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GM2 gangliosidosis, AB variant?

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Advocacy Organizations

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

National Tay-Sachs and Allied Diseases Association – Brighton, MA

National Tay-Sachs & Allied Diseases Association (NTSAD) leads the worldwide fight to treat and cure Tay-Sachs, Canavan, GM1, and Sandhoff diseases by driving research, forging collaboration, and fostering community. Supporting families is the center of everything we do.

Clinical Trials

For a list of clinical trials in this disease area, please click here.