GM2 gangliosidoses
Last revised by Daniel J Bell on 9 Jun 2020
Citation, DOI, disclosures and article data
Citation:
Bell D, GM2 gangliosidoses. Reference article, Radiopaedia.org (Accessed on 27 May 2024) https://doi.org/10.53347/rID-78714
rID:
78714
Article created:
9 Jun 2020,
Daniel J Bell ◉
Disclosures:
At the time the article was created Daniel J Bell had no recorded disclosures.
View Daniel J Bell's current disclosures
Last revised:
9 Jun 2020,
Daniel J Bell ◉
Disclosures:
At the time the article was last revised Daniel J Bell had no recorded disclosures.
View Daniel J Bell's current disclosures
Revisions:
1 time, by
1 contributor -
see full revision history and disclosures
Systems:
Tags:
Synonyms:
- GM2 gangliosidosis
The GM2 gangliosidoses are a small group of three closely-related rare genetic conditions, all due to a deficiency of beta-hexosaminidase, an enzyme vital for the metabolism of GM2 gangliosides in lysosomes, especially important in the brain. The GM2 gangliosidoses form a subgroup of the lysosomal storage diseases.
References
- 1. Cachon-Gonzalez MB, Zaccariotto E, Cox TM. Genetics and Therapies for GM2 Gangliosidosis. (2018) Current gene therapy. 18 (2): 68-89. doi:10.2174/1566523218666180404162622 - Pubmed
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