Description: Lysosomal storage disorders (LSD) form a broad group of hereditary metabolic diseases caused most often by a reduction or complete absence of the activity of specific lysosomal enzymes. This deficit leads to substrate accumulation in the lysosome, cell damage and progressive organ failure. In general, they are divided into: A.) disorders in the cleavage and degradation of glycans, glycoproteins, glycolipids, glycosaminoglycans and mucopolysaccharides; B.) disorders in the splitting and degradation of lipids – sphingolipids and triacylglycerides; C.) disorders in protein degradation and D.) disorders of lysosomal transport proteins. Individual LSDs are therefore accompanied by the accumulation of non-degraded products in tissues and glycoconjugates in the urine due to insufficient activity of lysosomal degradation enzymes (hydrolases).
Mucopolysaccharidosis is characterized by the accumulation of mucopolysaccharides (glycosaminoglycans – dermatan, heparan and chondroitin sulfate) in lysosomes. Some types of mucopolysaccharidoses are characterized by somatic symptoms such as facial dysmorphia, corneal opacities, bony lesions, disproportionate growth of the body to the head, and joint problems. On the other hand, in mucopolysaccharidosis type IIIa, these manifestations are suppressed and it is manifested mainly by severe involvement of the CNS (central nervous system).
The cause of the disease in dachshunds is a mutation in the gene encoding heparan sulfate sulfamidase (SGSH). Deficiency of this enzyme leads to the accumulation of heparan sulfate in lysosomes.
Inheritance: autosomal recessive
Mutation: c.740_742delCCA in SGSH gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes
The analysis is suitable for the following breeds: Dachshund Wire-haired Standard, Miniature, Rabbit
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