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Mucopolysaccharidosis (MPS I) is a lysosomal storage disease characterised by intracellular accumulation of the glycosaminoglycans (GAGs) dermatan and heparan sulfates.

10 working days

Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Mucopolysaccharidosis (MPS I) is a lysosomal storage disease characterised by intracellular accumulation of the glycosaminoglycans (GAGs) dermatan and heparan sulfates.

Clinical features

Affected cats have flat, broad faces, large heads, small ears, thick skin over the dorsal neck, wide cervical vertebrae, and hip subluxation. Other signs include abnormal gait, corneal clouding and some have a cardiac murmur of mitral insufficiency.

Additional information

References

Pubmed ID: 10356309

Omia ID: 664

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2. Collect DNA sample

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3. Results

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