Lysosomal Storage Disease

Lysosomal storage disease, or neuronal ceroid lipofuscinosis (NCL4), is a genetic disorder caused by a mutation in the ARSG gene, which encodes the lysosomal enzyme arylsulfatase G. This enzyme is responsible for breaking down molecules with lysosomes, the cell's recycling centers. When the ARSG enzyme is deficient, waste accumulates in cells, leading to cellular dysfunction and death. The disorder is most commonly seen in American Staffordshire Terriers, presenting as a late-onset, slowly progressive condition. In affected dogs, this condition leads to neurological degeneration that affects cognitive and motor function.