Klane K White, Ted Sousa
The mucopolysaccharidoses (MPSs) are a family of disorders characterized by the accumulation of glycosaminoglycans, which is caused by enzyme deficiencies in the lysosomal metabolism of these normal cellular byproducts. Skeletal abnormalities are early and prominent features of MPS, and the orthopaedic surgeon is often the first healthcare provider to raise suspicion for this diagnosis. Recently developed medical therapies for the management of MPS (ie, hematopoietic stem cell transplantation, intravenous enzyme replacement therapy) have led to increased lifespan but have not had much effect on the development of skeletal deformities...
January 2013: Journal of the American Academy of Orthopaedic Surgeons