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H886

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 specific form of the disease, Mucopolysaccharidosis VI (sometimes known as Maroteaux-Lamy Syndrome) is caused by a recessive mutation to the gene ARSB. The variant analysed in this test occurs in the Miniature Pinscher. Other related variants of MPS VI are known to occur in the Great Dane, Miniature Poodle and Miniature Schnauzer.

Caractéristiques cliniques

Affected puppies present in the first months of life with stunted growth (sometimes to the point of disproportionate dwarfism), difficulty walking, limb stiffness and general failure to thrive. The disease may progress to cause difficulty breathing, and affected dogs are often euthanized on humane grounds.

Additional Information

Références

Pubmed ID: 32985704

Omia ID: 666

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