Metabolic Enzyme Deficiency in Dogs

By PetMD Editorial on Jul. 2, 2008

Lysosomal Storage Diseases in Dogs

Lysosomal storage diseases are primarily genetic and are caused by a lack of the enzymes that are needed to perform metabolic functions. It is a rare disease that most commonly occurs in puppies. The disease causes an accumulation of various substances that would otherwise be eliminated by the enzymes, and which become stored in the dog’s tissues in abnormal amounts (usually occurring in the nervous system). As a result, cells swell and can no longer function normally. Unfortunately, lysosomal storage diseases are always fatal.

Humans also suffer from separate but similar lysosomal storage diseases, and for that reason this disease has been studied more than the commonly inherited dog disorders.

The following breeds are most likely to have the disease:

  • 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 has these symptoms and is one of the previously listed breeds, your veterinarian will want to know your dog’s history so that a diagnosis can be made. The following tests are likely to be performed:

  • Complete blood count
  • Biochemical profile
  • Urinalysis
  • X-rays of chest and abdominal area
  • Ultrasound of abdomen
  • Biopsy of tissue
  • Enzyme measure



If the dog is weak and dehydrated, an IV will be inserted and fluids and electrolytes will be administered. A dietary plan will be also be arranged to ward off hypoglycemia (low blood sugar). Activity must be limited. Your dog should not climb stairs, for example. Careful monitoring is required because there is a high risk of developing secondary infections.

Living and Management 

Restrict activity and be alert to the dog's symptoms. In addition, maintain the prescribed nutritional plan. Blood sugar, growth, and hydration status must be monitored regularly. This disease is progressive, and unfortunately, it is ultimately fatal.

Remember that the disease is genetic, and inbreeding should be carefully avoided when there is a defective gene in the family. Dogs that have the disease should also never be mated.

Help us make PetMD better

Was this article helpful?

Get Instant Vet Help Via Chat or Video. Connect with a Vet. Chewy Health