An Interactive Guide to the Underdiagnosed, Underestimated, but Treatable Metabolic Disorders

This infographic activity uses a self-directed, visual update to the state-of-the-art diagnosis and management of treatable lysosomal storage disorders. Much of what you learned in your primary training may be outdated because of rapid advances in genetic, molecular, and clinical approaches to these conditions. While the LSDs were often fatal conditions, new treatments have completely changed the possible outcomes for patients, but a major barrier is recognition of the condition in time for treatment to be effective. In addition to a graphical approach to clinical pearls to update your knowledge, Barbara K. Burton, MD, discusses individual conditions, the implications of emerging newborn screening programs, and how to avoid pitfalls in diagnosis of LSDs. Have fun exploring the layers of this interactive metabolic disorder’s activity!

Content Areas:
• Lysosomal storage diseases
• Heritable diseases
• Metabolic disorders
• Inborn errors of metabolism
• Rare diseases
• Genetic diseases
• Enzyme replacement therapy
• Substrate reduction therapy
• Case studies