Bone-marrow transplantation has increased the survival of patients with mucopolysaccharidosis-I. We describe the spinal problems and their management in 12 patients with this disorder who have been followed up for a mean of 4.5 years since transplantation. High lumbar kyphosis was seen in ten patients which was associated with thoracic scoliosis in one. Isolated thoracic scoliosis was seen in a...

Received December 15, 2003 Abstract In this article, we review specific therapies that tackle the basic biochemical defects of lysosomal storage diseases. These include bone marrow transplantation, substrate deprivation therapy, enzyme replacement therapy and enzyme enhancement therapy. We particularly update the progress of development of enzyme replacement therapy, which plays a major role in...