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Lysosomal storage diseases (LSDs) are a group of more than 40 different inherited metabolic diseases, which arise from a gene defect or mutation that impairs proper functioning of a particular lysosomal enzyme or its transport protein. Clinical presentation is very variable among the diverse group of LSDs. A defect in one lysosomal enzyme can have a greater affect on one particular tissue, for example, skeletal muscle, whereas another may have its main effect on the central nervous system. At this time there is no cure for any LSD, and in the past only symptomatic treatment was available. However, throughout the past several decades, remarkable progress has been made in developing more effective treatments such as hematopoietic stem cell transplantation (HCT) and enzyme replacement therapy (ERT). These therapies have led to significant improvement in quality of life as well as reduction in clinical symptoms for some of the LSDs. A child’s general pediatrician, often following him/her from birth, may be the first to note clinical signs and symptoms of a LSD, leading to early diagnosis and treatment. What follows is a summary of several LSD, along with an update on available and upcoming treatment modalities. ABOUT THE AUTHORS Elizabeth R. Lim-Melia, MD, is Assistant Director, Regional Medical Genetics Center, and Instructor of Pediatrics, N.Y. Medical College, Valhalla, New York. David F. Kronn, MD, is Associate Professor of Pediatrics, N.Y. Medical College. Address correspondence to: Elizabeth R. Lim-Melia, MD, 503 Grasslands Road, Valhalla, NY 10595; fax 914-345-1753; or e-mail Elizabeth_LimMelia@nymc.edu. Dr. Lim-Melia and Dr. Kronn have disclosed no relevant financial relationships. doi: 10.32800904481-20090723-09