Mucopolysaccharidosis (MPS) refers to a group of inherited metabolic disorders, attributed to defects in a series of catabolic enzymes, which results in multisystemic accumulation of improperly degraded glycosaminoglycans (GAGs). The undegraded GAGs usually escape from the cells and can be detected in the urine, a urine test can be used as a screening test. The common clinical signs include growth retardation, skeletal deformities, corneal cloudiness, facial dysmorphia and, in some cases, neurological signs. MPS disorders have been identified in both dogs and cats.
MPS VI was first seen in Miniature Pinschers with stunted growth and skeletal abnormalities mostly involving the hips, hence they were misdiagnosed as having hip dysplasia or femoral head necrosis. The mutation causing MPS VI in this breed has been identified and a DNA test is now available at Lboklin. The test will help breeders to control the mutation in the breed.