Mucopolysaccharidosis (MPS)

MPS IIIB in Schipperkes
MPS VI
General Submission Form (for other forms of MPS)

Description
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders due to defects in the degradation of certain polysaccharides that are found surrounding cells in the tissues. The accumulation of mucopolysaccharides can result in facial abnormality, skeletal deformities (pectus excavatum, abnormal vertebral structures, and hip dysplasia), ocular changes (corneal opacity) and neurologic signs. There are several types of MPS disorders recognized in companion animals. For a few breeds, a DNA test has been developed.

A simple MPS spot urine-screening test for the detection of different types of MPS disorders is available (metabolic screening). Once MPS is recognized in a urine specimen, the specific MPS product can be determined and appropriate enzyme studies on serum, white blood cells, or tissue samples may lead to the discovery of a particular new MPS disorder.

MPS I disease is due to an alpha-L-iduronidase deficiency. The disease has been seen in domestic shorthair cats. A DNA based test has been developed to screen cats related to animals in the original pedigree. For other cats who probably have a new mutation, enzyme activity must be measured (metabolic screen).

MPS VI disease is due to an arylsulfatase B deficiency and has been reported in Siamese and domestic shorthair cats, as well as Miniature Pinschers, Miniature Schnauzers, Welsh Corgis, and Chesapeake Bay Retrievers. A DNA based test is available to screen Siamese cats, in other cats an enzyme activity test is required (metabolic screening). Similarly, a DNA test has recently been developed for Miniature Pinschers with MPS VI. MPS VII disease is due to a B-glucuronidase deficiency and has been described in mixed breed dogs, German Shepard dogs, and cats, and DNA tests have been developed. For others, specific enzyme activity studies are required (metabolic screening).

For Siamese cats and related DSH cats as well as Miniature Pinschers or German Shepard dogs that are suspected to be affected or carriers of MPS VI, please use the MPS VI DNA test form. For all other cases, please use the general submission form and provide adequate information about clinical signs and laboratory test results.

Clinical Signs:
Facial abnormality, skeletal deformities (pectus excavatum, abnormal vertebral structures, and hip dysplasia), ocular changes (corneal opacity) and neurologic signs are recognized as signs of an MPS disorder due to accumulation of mucopolysaccharides.

Affected Breeds:
MPS VII - German Shepard, Mixed Breed Dogs and others.

Required Samples:
EDTA Blood, 1-2 mL or 2 Buccal Swabs (DNA Tests)
Urine, 1-2 mL (urine-screening test)

Price: $75 each