OMIA:000403-9823 : Gangliosidosis, GM2, generic in Sus scrofa (pig)
Categories: Lysosomal storage disease
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: yes
Key variant known: no
Cross-species summary: A lysosomal storage disease in which there is a buildup (storage) of GM2 gangliosides (a type of glycolipid) in various tissues, due to the lack of the enzyme hexosaminidase, whose task is to break down the GM2 ganglioside into its constituents. Characterised by progressive neuromuscular dysfunction and impaired growth from an early age.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|1978||Kosanke, S.D., Pierce, K.R., Bay, W.W. :|
|Clinical and biochemical abnormalities in porcine GM-2- gangliosidosis Veterinary Pathology 15:685-699, 1978. Pubmed reference: 108843.|
|1976||Pierce, K.R., Kosanke, S.D., Bay, W.W., Bridges, C.H. :|
|Porcine cerebrospinal lipodystrophy (GM-2 gangliosidosis) American Journal of Pathology 83:419-422, 1976. Pubmed reference: 817606.|
|1968||Read, W.K., Bridges, C.H. :|
|Cerebrospinal lipodystrophy in swine Pathologia Veterinaria 5:67-74, 1968. Pubmed reference: 5690660.|
- Created by Frank Nicholas on 06 Sep 2005