Canine Lysosomal Storage Diseases

Introduction

Degenerative heritable diseases involving the brain can often seem intimidating due to the large number of different disorders and the fact that many breeds are predisposed to certain specific diseases. However, if the various disorders are grouped according to their identifiable characteristics (i.e., what makes each stand out from the rest), they can become more manageable. This article considers the clinical characteristics of lysosomal storage diseases, focusing on clues that help to identify these disorders in a particular patient, and discusses testing that can aid in diagnosis. However comparison tables are included (Tables 1 and 2) to highlight various degenerative canine encephalopathies with clinical signs that can overlap with that of lysosomal storage disorders, particularly those seen in young animals and in breeds predisposed to multiple degenerative disorders.

Key Points

• Animals diagnosed with lysosomal storage diseases are typically less than 1 year of age. Exceptions can include neuronal ceroid lipofuscinosis and globoid cell leukodystrophy.

• Simple physical examination and routine diagnostic testing (i.e., blood work, radiography, ultrasound exam) can yield important diagnostic clues in animals with lysosomal storage diseases.

• Genetic testing is available in some cases for specific breed-related problems.

• A negative (i.e., “normal”) metabolic disease panel does not guarantee the absence of a lysosomal storage disorder.