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K383

There are several mutations known in cats to cause gangliosidosis, which is a fatal, progressive neuronopathic lysosomal storage disease.

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Caractéristiques

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

Informations générales

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.

Caractéristiques cliniques

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

Références

Pubmed ID: 19231264

Omia ID: 1462

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