Mucopolysaccharidosis type VII in a German Shepherd Dog

Mucopolysaccharidoses are a group of rare genetic disorders of glycosaminoglycan catabolism resulting in lysosomal storage. Mucopolysaccharidosis type VI I was first identified in a mixed-breed dog 2 decades ago, and the same disease-causing mutation has been identified in a young German Shepherd Dog. Clinical signs of mucopolysaccharidosis type VII are corneal clouding and severe skeletal deformities; affected animals are unable to ambulate at several weeks to months of age. Screening tests for mucopolysaccharidoses are available; furthermore, there are specific blood enzyme and DNA-based tests to distinguish the forms of mucopolysaccharidosis in clinically affected and carrier animals.