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H418

Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues.

10 working days

Caractéristiques

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

Informations générales

Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues. This variant of the disease, known as Mucopolysaccharidosis Type IIIA (MPS IIIA), or as Sanfilippo Syndrome, is found in the Dachshund. The variant is caused by a recessive mutation to the gene SGSH (sometimes called HSS). A closely related variant is also found in the New Zealand Huntaway Dog.

Caractéristiques cliniques

Affected dogs present at adulthood with slowly progressing spinocerebellar ataxia; a gradual loss of coordination, mainly in the limbs and head. Veterinary analysis can confirm the diagnosis with the presence of heparan sulfate in the urine.

Additional Information

Références

Pubmed ID: 10950929

Omia ID: 1309

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