Lysosomal storage disease

General Information: Lysosomal storage disease (LSD) is a group of inherited metabolic disorders that affect the ability of cells to break down waste materials due to a deficiency in certain enzymes. In dogs, one form of LSD is associated with a mutation in the CNP gene, which impairs the function of a crucial enzyme involved in the breakdown of complex molecules within lysosomes. This disorder leads to the accumulation of undigested materials in cells, which causes progressive damage to various organs and tissues. Lysosomal storage diseases in dogs are typically inherited in an Autosomal Recessive manner, meaning that a dog must inherit two copies of the mutated gene—one from each parent—to be affected.

Symptoms of LSD can vary depending on the specific type and the organs involved but generally include developmental delays, neurological deficits, organ enlargement (such as in the liver or spleen), and in some cases, seizures, muscle weakness, or loss of coordination. As the condition progresses, affected dogs may experience severe health complications, and in many cases, the prognosis is poor. Early diagnosis and supportive care can help manage symptoms and improve quality of life, but there is currently no cure for most forms of LSD.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Carrier (No symptoms but can pass the mutation to offspring)

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the CNP gene variant can determine whether a dog is at risk for developing Lysosomal Storage Disease. This disorder is inherited in an Autosomal Recessive manner, meaning that a dog must inherit two copies of the mutated gene (one from each parent) to be affected.

Dogs with one copy of the mutation are carriers and typically do not show symptoms but can pass the mutation to their offspring. Dogs with two copies of the mutation will develop symptoms and require management for the condition. Genetic testing is crucial for breeding practices, as breeding two carriers can result in a 25% chance of producing affected puppies, while breeding a carrier with a non-carrier will result in a 50% chance of producing carrier offspring.