OMIA 000403-9823 : Gangliosidosis, GM2, generic in Sus scrofa

In other species: dog , domestic cat

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.

References


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.

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  • Created by Frank Nicholas on 06 Sep 2005