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Mucopolysaccharidosis VI (Miniature Pinscher Type)

Description

Mucopolysaccharidosis VI is a lysosomal storage disorder whereby mucopolysaccharides accumulate in the lysosomes. The mucoplysaccharides accumulation leads to organ and cellular dysfunctions. This disease is a result of the N-acetylgalactosamine 4-sulphate enzyme deficiency. The mutation of this disease leads to the premature N-acetylgalactosamine 4-sulphate enzyme. Signs of this disease can include facial dysmorphia, growth retardation, skeletal deformities and loud breathing.

Recommended Breeding

Diseases

Mucopolysaccharidosis VI (Miniature Pinscher 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:

Metabolic - Associated with the enzymes and metabolic processes of cells

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:

G>A

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

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