Lysosomal Storage Diseases Average Cost

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What are Lysosomal Storage Diseases?

Metabolic enzyme deficiencies cause specific lysosomal storage diseases, depending upon which enzyme a dog lacks. When the metabolic process does not occur, the metabolic product that should be broken down in order for the body to function accumulates, causing swelling and organ dysfunction. Genetic metabolic enzyme deficiencies manifest soon after birth, when a healthy puppy fails to thrive and does not develop at the same rate as the rest of his litter. Lysosomal storage diseases progress rapidly, and affected dogs typically die between four to six months of age, as there is no cure.

A metabolic enzyme deficiency, also known as a metabolic storage disorder, occurs when a dog’s body fails to produce a sufficient amount of an enzyme necessary to metabolize, or break down, a specific substance. Metabolic enzyme deficiencies are an autosomal recessive disorders, making them very rare.

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Symptoms of Lysosomal Storage Diseases in Dogs

In addition to the common symptoms of failure to thrive and slow development, specific metabolic enzyme deficiencies affect specific aspects of a dog’s functioning.

Ceroid lipofuscinosis
The lack of an enzyme that breaks down lipopigments, which are a fat, leading to their buildup in neuronal cells and organs such as the spleen, liver, and kidneys. It affects Border Collies, Chihuahuas, Cocker Spaniels, Dachshunds, English Setters and Salukis. Specific symptoms include:
  • Diminished eyesight
  • Behavioral changes
  • Dementia
  • Seizures
  • Ataxia (loss of muscle coordination)
The lack of an enzyme that breaks down gangliocides, a surface molecule in brain cells, which affects Beagle crosses, German Shorthaired Pointers, and Japanese Spaniels. Specific symptoms include:
  • Reduced vision
  • Lethargy
  • Weakness
  • Behavioral changes
  • Dementia
  • Stiff gait
  • Incoordination
  • Tremors
  • Paraparesis (partial paralysis)
Globoid cell leukodystrophy
Also known as Krabbe’s Disease, it is the lack of an enzyme that breaks down psychosine, a galactolipid responsible for the facilitation of nerve impulses. It affects Beagles, Bluetick Hounds, Cairn Terriers, Poodles and West Highland Terriers. Specific symptoms include:
  • Impaired vision
  • Tremors
  • Exaggerated gait
  • Incoordination
  • Paraparesis (partial paralysis)
The most common metabolic enzyme deficiency, it is caused by a lack of the enzyme that breaks down glucosylceramidase, causing them to accumulate in the brain, liver and lymph nodes. It affects Australian Silky Terriers and Dalmatians. Specific symptoms include:
  • Incoordination
  • Tremors
  • Exaggerated gait
  • Hyperactivity
A deficiency in the enzyme that breaks down glycogen, a form of glucose stored in the liver and muscles, which affects Australian Silky Terriers. Specific symptoms include:
  • Incoordination
  • Tremors
  • Decreased energy
  • Seizures
A deficiency in the enzymes that break down glycosaminoglycans, which build bone, cartilage, tendons, corneas, skin and connective tissue and affects Miniature Pinschers, Mixed-breed dogs, and Plott Hounds. Specific symptoms include:
  • Weakness beginning in hind legs and progressing to all limbs
  • Skeletal dysmorphism
  • Corneal clouding
Phosphofructokinase deficiency
Also known as glycogen storage disease type VII or Tarui’s disease, a deficiency in the enzyme that enables skeletal muscle cells to break down carbohydrates for energy, it affects Cocker Spaniels and English Springer Spaniels. Specific symptoms include:
  • Anxiety
  • Incoordination
  • Dementia
  • Seizures
  • Difficulty swallowing
  • Altered voice
Pyruvate kinase deficiency
A deficiency in pyruvate kinase leads to an inability to metabolize red blood cells and affects Basenjis, Beagles, Cairn Terriers and West Highland Terriers. Specific symptoms include:
  • Anemia
  • Weakness
  • Muscle wasting
  • Jaundice
  • Pale mucous membranes
  • Elevated heart rate
The lack of an enzyme that breaks down sphingomyelin, the phospholipids that create phosphoric acid, sphingosine and fatty acid in nervous tissue, which affects German Shepherds and Poodles. Specific symptoms include:
  • Incoordination
  • Exaggerated gait
  • Dullness
  • Tremors

Causes of Lysosomal Storage Diseases in Dogs

  • Genetic
  • Lack of enzymes required to perform basic metabolic functions

Diagnosis of Lysosomal Storage Diseases in Dogs

Proper diagnosis will be assisted by knowing the symptoms for the specific metabolic enzyme deficiency your dog’s breed puts it at risk for. Your veterinarian will be able to determine through physical examination if your dog’s symptoms match a specific disorder and confirm the diagnosis through testing.

A blood sample will be taken in order to be analyzed for a complete blood count, measuring red and white blood cells, as well as a blood chemistry profile, measuring levels of glucose, potassium, nitrogen, calcium and other substances. An additional blood test, known as an enzyme assay, may be used to measure the level of specific enzymes in order to obtain an accurate diagnosis. Abnormalities in the blood chemistry profile will point to problems with specific organ functioning. A urinalysis will be performed in order to assess urinary and kidney functioning. Depending upon the specific deficiency suspected, additional testing may or may not include x-rays and/or ultrasound or tissue biopsy.

Treatment of Lysosomal Storage Diseases in Dogs

Unfortunately, there is no cure for metabolic enzyme deficiencies, and the only treatments are palliative. As this is a fatal condition, you may choose euthanasia or a palliative plan to minimize discomfort. Treatments may include IV fluids in case of dehydration, dietary changes, close monitoring, and restriction of activity. Most dogs will die of the condition by six months of age.

Recovery of Lysosomal Storage Diseases in Dogs

As recovery is not possible with metabolic enzyme deficiencies, afflicted puppies may live out the rest of their lives in managed care. Measures include ensuring access to water to prevent dehydration, following a diet designed to prevent elevated blood sugar, monitoring of the progression of symptoms and preventing the dog from injuring itself by limiting physical activity.

It is important to note that metabolic enzyme deficiencies are autosomal recessive conditions, meaning that two genes for the condition must be present in order for the offspring to inherit it. It is for this reason that inbreeding increases the prevalence of these disorders in purebred populations, and precautions should be taken to eliminate inbreeding.

Lysosomal Storage Diseases Questions and Advice from Veterinary Professionals

11 Years
Serious condition
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Serious condition

Has Symptoms


The opening description of your website on lysosomal storage disease appears to limit its extent to puppies. We have an 11 year old beagle that just received this diagnosis after first concluding that the problem was arthritis, then a herniated disc, then spinal cord inflammation, and now storage disease. Her dominant symptoms are an inability to walk with a turned under front paw, a splayed rear leg, lost weight, and a severe lack of energy. Previous treatments have included Medacam, prednisone, antibiotics, and 4 chemo injections. None of these have improved her condition. Is it possible for storage disease to develop in an older dog and what, if any, options do we have?

Dr. Callum Turner, DVM
Dr. Callum Turner, DVM
2514 Recommendations

Lysosomal storage disease is an inherited disease which usually presents with symptoms between four months and four years old; the effects of the disease are similar to the symptoms you are describing. There have been reports in larger animals that long term exposure to poisons or toxins may interfere with the biological pathway leading to an acquired version of the condition; but I haven’t read about it in small animals (dogs and cats). Regards Dr Callum Turner DVM

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