Lysosomal Storage Disorders: Neurological Manifestations

Released On
October 21, 2020

Expires On
October 21, 2021

Media Type

Completion Time
55 minutes

Genetics, Neonatology, Neurology, Pediatrics, Primary Care

Mental Health, Neonatal, Pediatrics

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This activity is provided by EXCEL CONTINUING EDUCATION.

This activity is supported in part by an independent education grant from SANOFI GENZYME.

Credit Available

  • Physicians — maximum of 1.0 AMA PRA Category 1 Credit(s)

All other health care professionals completing this course will be issued a statement of participation.

Target Audience

This activity is designed to meet the educational needs of geneticists, neurologists, neonatalogists, pediatricians, and other healthcare professionals who during their practice may encounter, or already treat and manage, patients with lysosomal storage disorders.

Program Overview

This CME-accredited enduring activity offers an overview of the neurological clinical manifestations of several lysosomal storage disorders with a goal of increasing awareness and improving management of patients with these conditions.

Learning Objectives

Upon completion of this activity, participants should be better able to:

  • Examine how defining the phenotype/genotype relationship can impact genetic and developmental issues
  • Assess why variations in neurological manifestations make certain LSDs difficult to diagnose
  • Review neurologic clinical manifestations reported in patients with LSDs
  • Discuss why psychiatric features may be a presenting complaint in patients with certain later-onset LSDs


Gustavo H.B. Maegawa, MD, PhD, FACMG

Gustavo H.B. Maegawa, MD, PhD, FACMG

Associate Professor
University of Florida
Department of Pediatrics/Genetics & Metabolism
Gainesville, FL


Dr. Maegawa obtained his medical degree from the Universidade Federal do Parana in Brazil in 2000 and completed a residency in pediatrics and medical genetics at Portal Hospital de Clínicas de Porto Alegre in 2003. He continued his training for a fellowship in clinical and metabolic genetics at the Hospital for Sick Children in Toronto, Canada in 2005 and a fellowship in biochemical genetics at the same hospital in 2008. A research fellowhip in biochemical genetics was completed in 2008 at the University of Toronto in Canada.

Accreditation Statement

EXCEL Continuing Education is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

Credit Designation

EXCEL Continuing Education designates this live activity for a maximum of 1 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Disclosures of Conflicts of Interest

Gustavo H.B. Maegawa, MD, PhD, FACMG

  • Dr. Maegawa has received grant support from different divisions of US government and not related to any commercial entity.

EXCEL staff and peer reviewer

  • Nothing to disclose.

Instructions for Participation and Credit

There are no fees for participating and receiving CME credit for this enduring activity. To receive CME credit participants must:

  1. Read the CME/CE information and faculty disclosures.
  2. Participate in the online activity.
  3. Submit the evaluation form.
Certificates will be emailed to the participant

Course Viewing Requirements

Supported Browsers:
Internet Explorer 8.0+ for Windows 2003, Vista, XP, Windows 7, Windows 8.1 and above
Google Chrome 28.0+ for Windows, Mac OS, or Linux
Mozilla Firefox 23.0+ for Windows, Mac OS, or Linux
Safari 6.0+ for Mac OSX 10.7 and above

Supported Phones & Tablets:
Android 4.0.3 and above
iPhone/iPad with iOS 6.1 or above

Disclosure of Unlabeled Use

EXCEL CONTINUING EDUCATION requires that faculty participating in any CME activity disclose to the audience when discussing any unlabeled or investigational use of any commercial product or device not yet approved for use in the United States.


This activity is designed for educational purposes. Participants have a responsibility to utilize this information to enhance their professional development to improve patient outcomes. Conclusions drawn by the participants should be derived from careful consideration of all available scientific information. The participant should use his/her clinical judgment, knowledge, experience, and diagnostic decision-making before applying any information, whether provided here or by others, for any professional use.

Contact Information

For CME questions please contact: