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Disorder - Gangliosidosis, GM2

Organ Systems Involved
Nervous/sensory

Alternative disorders described within LIDA
    Fucosidosis, alpha; Gangliosidosis, GM1; Gangliosidosis, GM2A deficiency; Glycogen storage disease II; Glycogen storage disease IV; Krabbe disease; Mannosidosis, alpha; Mucolipidosis II; Mucopolysaccharidosis I; Mucopolysaccharidosis VI; Mucopolysaccharidosis VII; Neuronal ceroid lipofuscinosis; Ceroid lipofuscinosis; Niemann-Pick disease, type C

Alternative Names
Gangliosidosis; Tay-Sachs Disease (Gangliosidosis GM2 variant B); Sandhoff disease (gangliosidosis GM2 variant 0); Gangliosidosis GM2, GM2A deficiency (gangliosidosis GM2 variant AB)

Presenting Signs
    Gangliosidosis GM2 occurs in cats that have a deficiency of a chemical (?-hexosaminidase) required to break down a material called GM2 ganglioside in cell walls. This deficiency causes GM2 ganglioside and other substances to build up within cells, causing irreversible cell damage. The damage happens particularly in cells in the brain, spinal cord and nerve roots. At first, cats may display head tremors, a high-stepping gait and excess production of tears. As the disease progresses cats may display tremors all over, lose their vision and mobility, have trouble eating, drinking and urinating, become excessively startled by sounds, seizure and lose their ability to maintain body heat. Liver enlargement may also occur in one variant of this disorder. Ultimately the disease is fatal.

Cats at Risk
    Cats with a family history of Gangliosidosis GM2 are at a high risk of developing this disease. Clinical signs of Gangliosidosis GM2 variants B and A usually emerge at one to two months of age, with survival to six to 11months of age. Slightly older cats are at risk of developing variant AB, with onset of clinical signs reported at four to six months of age. There is no correlation between gender and development of Gangliosidosis GM2.

Breeds Affected
Korat


Treatment
    None: treatment is aimed at making cats comfortable by treating symptoms of the disease e.g. providing warmth, until the severity of the disease necessitates euthanasia.

PubMed References
Gangliosidosis, GM2

Contributor
Rosemary Cuming