Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Book

Tay-Sachs Disease

Forshing Lui  1 , Praveen Kumar Ramani  2 , Bindu Parayil Sankaran  3
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
.
Affiliations
Free Books & Documents
Book

Tay-Sachs Disease

Forshing Lui et al.
Free Books & Documents

Excerpt

Tay-Sachs disease is a progressive, lethal neurodegenerative disorder caused by a deficiency of the enzyme hexosaminidase-A that results in the accumulation of GM2 gangliosides. GM2 gangliosidoses comprise 3 different diseases: Tay-Sachs disease, Sandhoff disease, and the AB variant. GM2 gangliosidoses manifest mainly with central nervous system dysfunction. Sandhoff disease is different from the other 2 gangliosidoses with its systemic involvement, including hepatosplenomegaly, cardiomegaly, macroglossia, and skeletal abnormalities.

The disease is classified into infantile, juvenile, and adult forms based on the age at presentation. Early diagnosis of Tay-Sachs is clinically challenging because of subtle clinical features and nonspecific biochemical findings. Accurate diagnosis is essential for proper management and reducing complications associated with the disease.

PubMed Disclaimer

Conflict of interest statement

Disclosure: Forshing Lui declares no relevant financial relationships with ineligible companies.

Disclosure: Praveen Kumar Ramani declares no relevant financial relationships with ineligible companies.

Disclosure: Bindu Parayil Sankaran declares no relevant financial relationships with ineligible companies.

References

    1. Solovyeva VV, Shaimardanova AA, Chulpanova DS, Kitaeva KV, Chakrabarti L, Rizvanov AA. New Approaches to Tay-Sachs Disease Therapy. Front Physiol. 2018;9:1663. - PMC - PubMed
    1. Gravel RA, Triggs-Raine BL, Mahuran DJ. Biochemistry and genetics of Tay-Sachs disease. Can J Neurol Sci. 1991 Aug;18(3 Suppl):419-23. - PubMed
    1. Sheth J, Nair A, Sheth F, Ajagekar M, Dhondekar T, Panigrahi I, Bavdekar A, Nampoothiri S, Datar C, Gandhi A, Muranjan M, Kaur A, Desai M, Mistri M, Patel C, Naik P, Shah M, Godbole K, Kapoor S, Gupta N, Bijarnia-Mahay S, Kadam S, Solanki D, Desai S, Iyer A, Patel K, Patel H, Shah RC, Mehta S, Shah R, Bhavsar R, Shah J, Pandya M, Patel B, Shah S, Shah H, Shah S, Bajaj S, Shah S, Thaker N, Kalane U, Kamate M, Kn VR, Tayade N, Jagadeesan S, Jain D, Chandarana M, Singh J, Mehta S, Suresh B, Sheth H. Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre. Orphanet J Rare Dis. 2024 Aug 13;19(1):295. - PMC - PubMed
    1. Picache JA, Zheng W, Chen CZ. Therapeutic Strategies For Tay-Sachs Disease. Front Pharmacol. 2022;13:906647. - PMC - PubMed
    1. Lew RM, Burnett L, Proos AL, Delatycki MB. Tay-Sachs disease: current perspectives from Australia. Appl Clin Genet. 2015;8:19-25. - PMC - PubMed

Publication types

LinkOut - more resources