What are Inherited Metabolic Storage Diseases?
The IMSDs are a diverse group of disorders resulting from an inherited deficiency or defect of a single enzyme or protein. These diseases are often characterized by progressive brain and nerve deterioration. Depending upon the specific disease, other body systems can be involved, such as the heart, bones, lungs, ears, nose and throat. The IMSDs include the mucopolysaccharidoses (MPS), such as Hurler and Maroteaux-Lamy syndromes; the leukodystrophies such as Adrenoleukodystrophy (ALD), Metachromatic Leukodystrophy (MLD), and Globoid Leukodystrophy (GLD), and other storage diseases, such as alpha-mannosidosis, fucosidosis, and I-cell disease. IMSD Comprehensive Care Program Team Medical Team Dr. Paul Orchard, Associate Professor and Medical Director of IMSD Program, specializes in transplanting patients with inherited genetic diseases. His laboratory is studying genetic engineering to improve transplant outcomes. Dr. Elsa Shapiro Ph.D., is Professor of Pediatrics and Neurology and the Di
