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Metabolic Enzyme Deficiency in Dogs

Lysosomal Storage Diseases in Dogs

Lysosomal storage diseases are a class of genetic disorders primarily affecting dogs, characterized by the deficiency of essential metabolic enzymes. These diseases are rare and typically manifest in puppies, leading to the accumulation of substances that would normally be metabolized by these enzymes. Consequently, these substances accumulate abnormally in the dog’s tissues, particularly in the nervous system, disrupting normal cellular functions and causing cellular swelling. Regrettably, lysosomal storage diseases in dogs are invariably fatal.

Similar diseases affect humans, and thus, extensive research has been conducted on these conditions in human medicine compared to the more commonly inherited dog disorders.

The following dog breeds are most susceptible to lysosomal storage diseases:

  • German shepherd
  • German short-haired pointer
  • English setter
  • Beagle
  • Cairn terrier
  • Blue tick hound
  • West Highland terrier
  • Portuguese water dog

Symptoms and Types

  • Failure to thrive
  • Balance problems
  • Exercise intolerance
  • Inconsistent behavior
  • Compromised vision
  • Fainting
  • Seizures


If your dog exhibits these symptoms and belongs to one of the breeds listed earlier, your veterinarian will inquire about your dog’s medical history to facilitate diagnosis. The following tests are typically conducted:

  • Complete blood count
  • Biochemical profile
  • Urinalysis
  • X-rays of the chest and abdominal area
  • Abdominal ultrasound
  • Tissue biopsy
  • Enzyme measurement


In cases where the dog is weak and dehydrated, the veterinarian will insert an intravenous (IV) line to administer fluids and electrolytes. A dietary regimen will also be established to prevent hypoglycemia (low blood sugar). It’s essential to limit the dog’s activity; for instance, stairs should be avoided. Close monitoring is crucial due to the elevated risk of secondary infections.

Living and Management

It’s important to restrict the dog’s activity and remain vigilant for any symptoms. Adhere to the prescribed nutritional regimen and regularly monitor blood sugar levels, growth patterns, and hydration status. Since the disease is progressive and ultimately fatal, it’s crucial to understand its genetic nature. Avoid inbreeding when a defective gene exists within the family lineage. Dogs affected by the disease should never be bred.

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