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Lysosomal Storage Diseases (LSDs) are genetic disorders where the body can't fully break down certain large molecules.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 9 |
| Mutation | c.1107del |
| Mode of Inheritance | Autosomal Incomplete Dominant |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | LSD |
Informations générales
Lysosomal Storage Diseases (LSDs) are genetic disorders where the body can’t fully break down certain large molecules. These molecules build up inside cell structures called lysosomes, causing ongoing damage, especially to the nervous system. In Dalmatian dogs, an autosomal dominant mutation with an incomplete penetrance in the CNP gene is linked to this lysosomal storage disease, resulting in slowly progressing symptoms.
Caractéristiques cliniques
Symptoms in affected Dalmatian dogs include neurological abnormalities (abnormal behaviour, cognitive decline, anxiety), developmental delays, organ enlargement, skeletal and eye abnormalities, and reduced life expectancy. Clinical signs typically manifest around 18 months of age, with neurological abnormalities and brain atrophy observed. Some heterozygous dogs may show milder, later-onset symptoms.
Additional Information
Références
Pubmed ID: 35447247
Year published: 2022
Omia ID: 2591
Omia variant ID: