This is a Multisystem condition.

Mucopolysaccharidosis Type I, MPS I

What is MPS I?

A type of lysosomal storage disease, this can cause skeletal abnormalities, growth retardation, and gait abnormalities, and can require close monitoring and special measures as dogs age. Lysosomal storage diseases are a class of disease stemming from inborn errors of metabolism. Lysosomes are one of many cellular structures with a highly specialized function: their job is to digest and recycle cellular waste: this includes engulfed molecules or microorganisms, byproducts of cellular metabolism, and old or degrading organelles. Lysosomes are known to contain over 50 enzymes (the proteins that do the digesting); storage disease arises when there is a malfunction in any of these enzymes. The hallmark of lysosomal storage disease is the microscopic appearance of the lysosomes: they appear enlarged and swollen with undigested byproducts. The buildup of undigested byproducts can lead to lysosomal, cell, tissue, and organ malfunction. Mucopolysaccharidoses (MPS) are defined by abnormal buildup of glycosaminoglycans, large sugar-protein molecules that are important for skeletal and joint function.

What are the signs & symptoms that develop in affected dogs?

Affected dogs have an upturned nose, joint laxity, an arched back, and cloudy corneas.

When do signs and symptoms develop?

Signs typically develop around 5 months of age. Most dogs with this disease do not survive longer than 2-3 years.

How do vets diagnose this condition?

Genetic and laboratory testing used to diagnose this disease.

How is this condition treated?

There is no treatment except supportive care for the clinical signs the affected dog develops.

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