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 Much of what you learned in your primary training may be outdated because of rapid advances in genetic, molecular, and clinical approaches to these conditions.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!

Presenting Faculty

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  Barbara K. Burton, MD

  Attending Physician, Genetics, Birth Defects & Metabolism
  Division of Genetics, Birth Defects and Metabolism
  Ann & Robert H. Lurie Children’s Hospital
  Chicago, Illinois