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 Much of what you learned in your primary training may be outdated because of rapid advances in genetic, molecular, and clinical approaches to these conditions.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

1.00 AMA PRA Category 1 CreditTM
1.00 ANCC Contact Hour
1.00 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

Learning Objectives

  • Discuss the incidence of lysosomal storage disorders (LSDs) as a disease class
  • Recognize the most common clinical presentation for LSDs
  • Identify red flags that are associated with LSDs
  • Apply diagnostic algorithms or consensus recommendations to diagnose LSDs
  • Describe the types of therapies available to treat LSDs

Faculty Disclosures

Barbara K. Burton, MD

Consultant: Aeglea, BioMarin, Denali, JCR, Takeda

Speakers bureau: BioMarin, Horizon, Sanofi

Accreditation and Certification

The Annenberg Center for Health Sciences at Eisenhower is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

The Annenberg Center for Health Sciences at Eisenhower designates this enduring activity for a maximum of 1.00 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
The Annenberg Center for Health Sciences is accredited as a provider of continuing nursing education by the American Nurses Credentialing Center's Commission on Accreditation.
A maximum of 1.00 contact hour may be earned for successful completion of this activity.
Provider is approved by the California Board of Registered Nursing, Provider #13664, for 1.00 contact hour.
To receive credit for education contact hours outside of the state of California, please check with your state board of registered nursing for reciprocity.

Additional Content Planners

Eugene Cullen, MD (Peer Reviewer)
No significant relationships to disclose.

Chris Fischer, MSc (Medical Writer)
No significant relationships to disclose.

Sally Schermer, RN, BSN, MBA, CCRN, CPAN, CAPA (Nurse Planner)
No significant relationships to disclose.

Annenberg Center for Health Sciences

Staff at the Annenberg Center for Health Sciences at Eisenhower have no relevant commercial relationships to disclose.