Mucopolysaccharidosis Type 3A
Body function: Muscle & Neurological
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Mucopolysaccharidosis type 3A (MPS IIIA) is a hereditary lysosomal storage disorder found in Dachshunds. It is caused by a deletion mutation in the SGSH gene. This mutation leads to a deficiency in the enzyme heparan N-sulfatase, which is crucial for breaking down heparan sulfate. When the enzyme is insufficient, heparan sulfate accumulates in cells. The buildup can affect the nervous system, resulting in progressive neurological symptoms.
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