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Lysosomal storage disease is a metabolic disease characterised by (partial) inability to break down metabolites caused by absence or malfunctioning of lysosomal enzymes.
10 working days
Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Lysosomal storage disease is a metabolic disease characterised by (partial) inability to break down metabolites caused by absence or malfunctioning of lysosomal enzymes. The storage of these metabolites is in a part of the cell called the lysosome.
Clinical features
Affected dogs have late-onset and slowly progressive behavioral changes, cognitive and motor degeneration, ataxia, seizures, and premature death.
Additional information
References
Pubmed ID: 20679209
Omia ID: 1503
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