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Mucopolysaccharidosis VI (Miniature Schnauzer Type)

Description

Mucopolysaccharidosis VI (Miniature Schnauzer Type) is an inherited Lysosomal Storage Disorder.

Affected dogs have insufficient activity of the Enzyme beta-glucuronidase, which is responsible for breaking down glycosaminoglycans (GAGs).

GAGs are an important component of Connective Tissue. In affected dogs, there is an accumulation of breakdown products in cells causing abnormal growth and function of various organ systems.

Clinical signs of MPS VI are most commonly associated with accumulations in the bones and joints. Affected dogs have variable clinical signs, but MPS is suspected when dogs show developmental abnormalities such as stunted growth, enlarged head with a pronounced underbite, and abnormal spinal alignment.

A veterinarian may assess internal organ abnormalities using an ultrasound. While affected dogs can survive with assistance for several years, they are often euthanised due to a poor quality of life.

Recommended Breeding

Diseases

Mucopolysaccharidosis VI (Miniature Schnauzer Type)

$60.00

Associated Breed(s):

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Labels:

Pathogenic (P)

A healthcare provider can use molecular testing information in clinical decision‑making for breeding programs and/or screening.

Category:

Haemolymphatic - Associated with the blood and lymph

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Gene:

ARSB

Variant Detected:

chr3: deletion, gross (>20)

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

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