MPS VI Submission Form
MPS IIIB in Schipperkes
Mucopolysaccharidosis (other forms)
Further MPS VI Research

Description:
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.

In mucopolysaccharidosis, certain large sugars (polysaccharides) of the body are not properly broken down. In MPS VI, the deficient enzyme is arylsulfatase B, which is responsible for degrading dermatin sulfate. MPS VI is autosomal recessively inherited and has been seen in humans, cats and, more recently, dogs.

Clinical Signs:
. The ensuing cellular accumulation results in skeletal deformities, including defects in the sternum, vertebrae and particularly the hip joints. To varying degrees they may also experience corneal cloudiness and facial dysmorphia.

The discovery of a disease-causing mutation in the arylsulfatase gene in Miniature Pinschers enabled the development of a DNA test which allows the identification of MPS affected, carrier, and normal (clear) animals. Affected Miniature Pinschers have not only been found in various states in the US, but also abroad. Thus, it is believed to be more wide spread and under-diagnosed than previously thought.

The clinicians and researchers at the University of Pennsylvania, with the support of the AKC Health Foundation, are now interested in examining if the common occurrence of Legge-Calves-Perthes (LCP) disease in Miniature Pinschers is related to MPS VI. LCP is a devastating hip disease; there is necrosis of the femur head due to an unknown cause. Although LCP is different than hip dysplasia and MPS VI, similar bone changes are observed in Miniature Pinschers with MPS VI and therefore MPS and LCP disease may be related in this breed.

Penn’s researchers are conducting a study to determine if there is an association between MPS and LCP disease. We are asking breeders, owners, and veterinarians who suspect either condition in a Miniature Pinscher to contact us and submit samples and information free of charge for a limited time. Please be assured that all results about individual animals will only be reported to the owner and kept strictly confidentially. To receive further information contact Dr. Giger at penngen@mail.vet.upenn.edu or by fax to 215 573 2162.

Affected Breeds:
Siamese, Miniature Pinscher, Miniature Schnauzer, Welsh Corgi, Chesapeake Bay Retriever and others.
DNA tests are available for Miniature Pinschers, Siamese and DSH.

Required Samples:
EDTA Blood, 1-2 mL or 2 Buccal Swabs (DNA Tests)
Urine, 1-2 mL (urine-screening tests for breeds without DNA tests)

Price: $75 each