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There are several mutations known in cats to cause gangliosidosis, which is a fatal, progressive neuronopathic lysosomal storage disease.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
There are several mutations known in cats to cause gangliosidosis, which is a fatal, progressive neuronopathic lysosomal storage disease. This mutation for GM2 has been found in the β-subunit gene (HEXB), causing a deficiency of β-N-acetylhexosaminidase activity. GM2 is an autosomal recessive disorder.
Clinical features
Clinical signs appear around 2 months of age and include neurological symptoms such as (severe) muscle tremors and loss of motor control. Therefore, leading to difficulty with coordination and eating and sometimes even to paralysis. The affected Burmese kittens often do not survive longer than 6 months.
Additional information
References
Pubmed ID: 19231264
Omia ID: 1462
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