Mucopolysaccharidosis Type VII
Body function: Muscle & Neurological
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Mucopolysaccharidosis type VII (MPS VII) is a severe lysosomal storage disorder primarily affecting German Shepherd, Laekenois, Malinois, and Tervuren breeds. The condition is caused by a mutation in the GUSB gene, leading to a deficiency in the enzyme beta-glucuronidase, which is essential for breaking down glycosaminoglycans (GAGs). When this enzyme is deficient, GAGs accumulate in cells, particularly in tissues like bone, cartilage, and connective tissue, resulting in progressive and debilitating symptoms.
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