Multisystemic Manifestations of Underlying Metabolic Diseases

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Faculty

Barbara K. Burton, MD

Professor of Pediatrics
Northwestern University Feinberg School of Medicine
Attending Physician
Division of Genetics, Birth Defects and Metabolism
Ann and Robert H. Lurie Children's Hospital
Chicago, Illinois

Disclosures

Disclosure: Barbara K. Burton, MD, has the following relevant financial relationships:
Served as an advisor or consultant for: Aeglea BioTherapeutics; Alexion Pharmaceuticals, Inc.; Applied Therapeutics; BioMarin Pharmaceutical Inc; Denali Therapeutics; Genzyme; Horizon Pharma; JCR Pharmaceuticals; Moderna, Inc.; Orchard Therapeutics; Passage Bio; Sio Gene Therapies; Takeda; Ultragenyx
Served as a speaker or a member of a speakers bureau for: BioMarin Pharmaceutical Inc; Takeda
Received grants for clinical research from: BioMarin Pharmaceutical Inc; Denali Therapeutics; Homology Medicines; JCR Pharmaceuticals; Sangamo BioSciences, Inc.; Takeda; Ultragenyx

Roberto Giugliani, MD, PhD

Department of Genetics/UFRGS
Medical Genetics Service/HCPA
DASA, Casa dos Raros
Porto Alegre, Brazil

Disclosures

Disclosure: Roberto Giugliani, MD, PhD, has the following relevant financial relationships:
Served as an advisor or consultant for: Abeona Therapeutics Inc.; Amicus Therapeutics; Azafaros; Idorsia Pharmaceuticals Ltd; Inventiva Pharma; Janssen; JCR Pharma; RegenxBio; Sanofi; Sigilon Therapeutics; Takeda
Served as a speaker or a member of a speakers bureau for: Amicus Therapeutics; BioMarin Pharmaceutical Inc; Janssen; JCR Pharma; Novartis; PTC Therapeutics; RegenxBio; Sanofi; Takeda; Ultragenyx
Received grants for clinical research from: PTC
Served as a contracted researcher for the following ineligible companies: Allievex; Avrobio; Azafaros; BioMarin Pharmaceutical Inc; Idorsia Pharmaceuticals Ltd; JCR Pharmaceuticals; Lysogene; Paradigm; Passage Bio; PTC Therapeutics; RegenxBio; Sanofi; Sigilon Therapeutics; Takeda; Ultragenyx

Martha Solano, MD

Neuropediatrician
Principal investigator
Fundacion Cardioinfantil
Bogotá, Colombia

Disclosures

Disclosure: Martha Solano, MD, has no relevant financial relationships.

Klane K. White, MD, MSc

Director
Skeletal Health and Dysplasia Program
Medical Director
Orthopaedic Research
Professor
Orthopedics and Sports Medicine
Seattle Children's Hospital
University of Washington
Seattle, Washington, United States

Disclosures

Disclosure: Klane K. White, MD, MSc, has the following relevant financial relationships:
Served as an advisor or consultant for: BioMarin Pharmaceutical Inc
Served as a speaker or a member of a speakers bureau for: BioMarin Pharmaceutical Inc
Received grants for clinical research from: BioMarin Pharmaceutical Inc; Pfizer, Inc.; TherAchon; Ultragenyx

Editor

Rita Moreira da Silva, PhD, MA, PharmD

Medical Education Director, WebMD Global, LLC

Disclosures

Disclosure: Rita Moreira da Silva, PhD, MA, PharmD, has no relevant financial relationships.

Compliance Reviewer

Leigh Schmidt, MSN, RN, CMSRN, CNE, CHCP

Associate Director, Accreditation and Compliance

Disclosures

Disclosure: Leigh Schmidt, MSN, RN, CMSRN, CNE, CHCP, has no relevant financial relationships.

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Posted: 17/05/2022

This educational activity is intended for an international audience of pediatricians, primary care physicians and orthopedists and orthopedic surgeons.

The goal of this activity is for the learner to be better able to better identify clinical manifestations of inborn errors of metabolism, with a particular focus on mucopolysaccharidosis (MPS) IVA and IV and recognize the importance of implementing early treatment in terms of patient outcomes.

Upon completion of this activity, participants will:

Have increased knowledge regarding the
- Identification of clinical manifestations regarding the diffuse compromise of skeletal and nonskeletal structures
Have greater competence related to
- Making a diagnosis early in the life of the patient to design the best treatment approach

Contents of This CPD Activity

All sections of this activity are required for credit.

Mucopolysaccharidoses: Classical and Nonclassical Patients

Global overview of newborn screening, with a focus on MPS, particularly MPS IVA and VI
Barbara K. Burton, MD

Clinical Case Scenarios: Differential Diagnosis of MPS vs Other Skeletal Dysplasia

Improve your ability to differentiate MPS IVA and MPS VI from other types of skeletal dysplasia
Klane K. White, MD, MSc

Mucopolysaccharidosis: The Importance of Early Treatment

Learn here about the impact of starting treatment early on patient outcomes
Martha Solano, MD

Mucopolysaccharidosis: Diagnostic Algorithm

Learn here all about diagnostic tools available, from classical to genetic panels
Roberto Giugliani, MD, PhD

Newborn Screening: What is it and How Will it Help the Diagnostic Journey?

Learn about recent developments about newborn screening and how this might impact management of MPS
Barbara K. Burton, MD

Page 1 of 9

Mucopolysaccharidoses: Classical and Nonclassical Patients

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Disclaimer

The educational activity presented above may involve simulated case-based scenarios. The patients depicted in these scenarios are fictitious and no association with any actual patient is intended or should be inferred.

The material presented here does not necessarily reflect the views of WebMD Global, LLC or companies that support educational programming on medscape.org. A qualified healthcare professional should be consulted before using any therapeutic product discussed. Readers should verify all information and data before treating patients or employing any therapies described in this educational activity.

Faculty and Disclosures

Faculty

Barbara K. Burton, MD

Roberto Giugliani, MD, PhD

Martha Solano, MD

Klane K. White, MD, MSc

Editor

Rita Moreira da Silva, PhD, MA, PharmD

Compliance Reviewer

Leigh Schmidt, MSN, RN, CMSRN, CNE, CHCP

Multisystemic Manifestations of Underlying Metabolic Diseases

Contents of This CPD Activity

Mucopolysaccharidoses: Classical and Nonclassical Patients

Clinical Case Scenarios: Differential Diagnosis of MPS vs Other Skeletal Dysplasia

Mucopolysaccharidosis: The Importance of Early Treatment

Mucopolysaccharidosis: Diagnostic Algorithm

Newborn Screening: What is it and How Will it Help the Diagnostic Journey?