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

To participate in this activity, please:

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 Much of what you learned in your primary training may be outdated because of rapid advances in genetic, molecular, and clinical approaches to these conditions.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

Course Credit:

1 AMA PRA Category 1 CreditTM
1 ANCC Contact Hour
1 CA-BRN Contact Hour


Opens: 2021-04-30
Closes: 2022-04-30

Target Audience:

This activity was developed for pediatricians, family physicians, internists, nurse practitioners, nurses, physician assistants, and other clinicians who are interested in the recognition, diagnosis and management of patients with lysosomal storage disorders.

This activity is supported by an independent educational grant from Sanofi Genzyme

    Presenting Faculty

  • 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