Lysosomal Storage Diseases (LSD)
Lysosomal storage diseases refer to a collection of disorders characterized by the body's inability to produce essential metabolic enzymes. Lysosomes serve as cellular ‘recycling centres’ converting worn-out materials into substances that cells can utilize. When specific metabolic enzymes are lacking, the unprocessed material accumulates, leading to tissue damage and eventual failure of organ systems.
Symptoms include decreased vision, changes in behaviour, ataxia, incoordination, lethargy, weakness, tremors, seizures, stiff gait and dementia.
Please note that the variant which cause the disease in Dalmatian is different from the variant which causes it in Doberman and so the test is also different. We will run the test that is relevant to the breed. If the breed isn’t listed, please specify which variant(s) you would like us to perform. Each variant will be charged separatedly.
additional information
In
Dalmatian, a genetic variant in the
CNP gene is responsible for lysosomal storage disease. Affected dogs exhibit gradually worsening symptoms such as abnormal behavior, cognitive decline, loss of coordination, apparent visual impairment, anxiety, pacing and circling, hypersensitivity, sleep disturbances, and loss of control over urination and defecation. These symptoms typically begin to appear around 18 months of age.
In Doberman dogs, a genetic variant in the MAN2B1 gene causes lysosomal storage disease. Symptoms in affected dogs can be observed as early as 2 months old, including clumsiness, difficulty standing, and frequent falls. Neurological examinations reveal slightly reduced mental alertness, proprioceptive ataxia, asymmetric reduced menace response, and moderate divergent strabismus.
Note
: different variant affects each breed
