General Endocrinology CME ACCREDITED Watch Time: 38 mins

touchEXPERT OPINIONS Long-chain fatty acid oxidation disorders: Pathophysiology, diagnosis and management

Watch leading experts discuss the causes of long-chain fatty acid oxidation disorders, their symptoms, diagnosis, and treatment, including nutritional management and possible future treatment options.

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Dr Barbara Burton
Northwestern University Feinberg, Chicago, USA
What is the pathophysiology of FAOD?

Dr Barbara Burton outlines the process of fatty acid oxidation in normal metabolism and how this is impacted by fatty acid oxidation disorders (FAOD). She also discusses the metabolic consequences of FAOD and the impact these disorders have on patients.

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Interview Questions
  • What is the physiology of fatty acid oxidation within normal metabolism?
  • How is fatty acid oxidation affected by different FAOD?
  • How prevalent are FAOD?
  • What are the metabolic consequences of FAOD?
  • What is the impact of FAOD on normal life for people with these disorders?
About Dr Barbara Burton

Dr Barbara K. Burton is a Professor of Pediatrics at the Northwestern University Feinberg School of Medicine and Clinical Practice Director in the Division of Genetics, Birth Defects and Metabolism at the Ann & Robert H. Lurie Children’s Hospital of Chicago. She is board-certified in paediatrics, clinical genetics and clinical biochemical genetics. Her clinical and research interests are focused on inborn errors of metabolism and newborn screening. Dr Burton is an investigator in numerous natural history studies and clinical trials of new therapies for various metabolic disorders, including many of the lysosomal storage disorders. She has published over 200 peer-reviewed articles, 50 book chapters and is an editor of two textbooks.

Dr Burton is active in professional organizations and is a Past-President of both the Society for Inherited Metabolic Disorders and the Chicago Pediatric Society.

She is an Emeritus Member of the Board of Directors of the Greater Chicago Area March of Dimes and received a Lifetime Achievement Award from the March of Dimes in 2018. She serves on the Medical Advisory Board of the Propionic Acidemia Foundation and Team Sanfilippo, and previously served on the Medical Advisory Board of the National Urea Cycle Defects Foundation.

Disclosures: Advisor/consultant to Agios, Aeglea, BioMarin Pharmaceutical Inc., Denali, Genzyme Corporation, JCR Pharma, Moderna, REGENXBIO Inc. and Shire; speaker/speakers bureau for Alexion Pharmaceuticals Inc., BioMarin, Genzyme, Horizon, Shire, and Ultragenyx; grants/clinical research from Alexion Pharmaceuticals Inc., ArmaGen, BioMarin Pharmaceutical Inc., Genzyme Corporation, Homology Medicines, Sangamo, Shire and Ultragenyx Pharmaceutical Inc.

 
Prof. Dr. Ute Spiekerkötter
University Children’s Hospital, Freiburg, Germany
What are the signs and symptoms of LC-FAOD and how are they diagnosed?

Prof. Dr. Ute Spiekerkötter describes the heterogenous phenotypes of long-chain fatty acid oxidation disorders (LC-FAOD) and discusses the diagnostic process for symptomatic patients. She also considers the role of newborn screening in the diagnosis of LC-FAOD.

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Interview Questions
  • How do patients with LC-FAOD initially present?
  • How are patients with symptomatic LC-FAOD usually diagnosed?
  • What is the role of newborn screening in the diagnosis of LC-FAOD?
  • How is the optimal management for asymptomatic patients with LC-FAOD determined?
About Prof. Dr. Ute Spiekerkötter

Prof. Dr. Ute Spiekerkötter is Chair and Medical Director of the Department of Pediatrics and Adolescent Medicine at the University Children’s Hospital in Freiburg, Germany, as well as the Laboratory of Genetic Metabolic Diseases for the diagnostics of inborn errors of metabolism.

Prof. Dr. Spiekerkötter specializes in paediatrics and metabolic medicine and paediatric endocrinology and diabetes at University Children’s Hospital Düsseldorf, Germany.

Prof. Dr. Spiekerkötter is a member of a number of national and international medical societies, is a reviewer and editor of international journals, and the author of books and more than 90 original research articles.

She also has a special interest in teaching and developing new interprofessional teaching concepts. She has received national and international awards for her scientific work and teaching projects.

Disclosures: Prof. Dr. Ute Spiekerkötter has no relevant financial disclosures.

 
Dr Jerry Vockley
University of Pittsburgh School of Medicine, Pittsburgh, USA
How are LC-FAOD currently managed and how may this change in the future?

Dr Jerry Vockley describes the current nutritional approach to managing long-chain fatty acid oxidation disorders (LC-FAOD) and discusses treatments which are currently in development for LC-FAOD, including their mechanisms of action and trial data.

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Interview Questions
  • How does nutritional management address LC-FAOD?
  • How effective is nutritional management of LC-FAOD?
  • Which treatments are on the horizon for LC-FAOD and how do they work?
  • How do you think new agents will be incorporated into the management of LC-FAOD?
About Dr Jerry Vockley

Dr Vockley graduated from the University of Pennsylvania School of Medicine in Philadelphia in 1984. He completed a residency in paediatrics at the Denver Children’s Hospital in 1987 and a fellowship in paediatrics and human genetics at Yale University School of Medicine in 1991. He then joined the faculty of the Mayo Clinic School of Medicine, where he established an Inborn Errors of Metabolism Clinic. He is board-certified in paediatrics, clinical genetics and biochemical/molecular genetics.

In 2004, Dr Vockley became Head of the Division of Medical Genetics at the Children’s Hospital of Pittsburgh. He is also Professor of Pediatrics at the University of Pittsburgh School of Medicine and Professor of Human Genetics at the Pitt Graduate School of Public Health. He directs an active research programme on inherited disorders of energy and protein metabolism, focused on both understanding the genetic causes of these disorders and developing new treatments for them. His research has earned National Institutes of Health (NIH) support continuously since the early 1990s. He currently holds three NIH research grants.

The diseases Dr Vockley treats are all related to defective enzymes and special proteins in the body that carry out chemical reactions.

Disclosures: Research support from NIH, Reno Pharmaceuticals and Ultragenyx Pharmaceutical Inc.

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Overview & Learning Objectives
Overview

In this activity, experts in fatty acid oxidation disorders (FAOD) discuss the causes of long-chain FAOD (LC-FAOD), their symptoms, diagnosis and treatment, including nutritional management and possible future treatment options.

This activity has been jointly provided by Oakstone Publishing and touchIME. Oakstone Publishing is accredited by the ACCME to provide continuing medical education to physicians.

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Target Audience

This activity is intended for endocrinologists, paediatricians and primary care physicians involved in the management of patients with LC-FAOD.

Disclosures

Oakstone Publishing has assessed conflict of interest with its faculty, authors, editors and any individuals who were in a position to control the content of this CME activity. Any identified relevant conflicts of interest were resolved for fair balance and scientific objectivity of studies utilized in this activity. Oakstone Publishing’s planners, content reviewers, and editorial staff disclose no relevant commercial interests.

Faculty

Dr Jerry Vockley discloses: Research support from NIH, Reno Pharmaceuticals and Ultragenyx Pharmaceutical Inc.

Dr Barbara Burton discloses: Advisor/consultant to Agios, Aeglea, BioMarin Pharmaceutical Inc., Denali, Genzyme Corporation, JCR Pharma, Moderna, REGENXBIO Inc. and Shire; speaker/speakers bureau for Alexion Pharmaceuticals Inc., BioMarin, Genzyme, Horizon, Shire, and Ultragenyx; grants/clinical research from Alexion Pharmaceuticals Inc., ArmaGen, BioMarin Pharmaceutical Inc., Genzyme Corporation, Homology Medicines, Sangamo, Shire and Ultragenyx Pharmaceutical Inc.

Prof. Dr. Ute Spiekerkötter has no relevant financial disclosures.

Content Reviewer

Walter Murray Yarbrough, MD, FACP, has no financial interests/relationships or affiliations in relation to this activity.

Touch Medical Director

Hannah Fisher has no financial interests/relationships or affiliations in relation to this activity.

Requirement for Successful Completion

Oakstone Publishing designates this enduring material for a maximum of 0.5 AMA PRA Category 1 Credit™️. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

In order to receive credit for this activity, participants must review and complete the post-test and evaluation form. A score of 70% or higher is needed to obtain CME credit.

Statements of credit are awarded upon successful completion of the post-test and evaluation form.

Date of original release: March 31, 2020. Date credits expire: March 31, 2021.

Learning Objectives

After watching this touchEXPERT OPINIONS, you should be better able to:

  • Describe the pathophysiology of fatty acid oxidation disorders (FAOD)
  • Describe the signs and symptoms of FAOD and how they are diagnosed
  • Discuss current approaches to managing long-chain FAOD and new treatments in development

This content is intended for healthcare professionals only. Please confirm that you are a healthcare professional.

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Question 1/5
Mutations in which enzymes result in long-chain fatty acid oxidation disorders?
Correct

Fatty acid oxidation disorders are inborn errors of metabolism due to disruption of either mitochondrial β-oxidation or the fatty acid transport using the carnitine transport pathway.

Reference
Merritt JL II, et al. Ann Transl Med. 2018;6:473.

Question 2/5
Why do long-chain fatty acid oxidation disorders cause symptoms in patients?
Correct

Symptoms resulting from long-chain fatty acid oxidation disorders are caused by energy deficiency in energy-dependent tissues and the toxic accumulation of metabolic intermediates.

References
Merritt JL II, et al. Ann Transl Med. 2018;6:473.
El-Gharbawy A, Vockley J. Pediatr Clin North Am. 2018;65:317–35.

Question 3/5
How should cardiomyopathy be approached in neonates with long-chain fatty acid oxidation disorders?
Correct

Cardiomyopathy is most often seen in neonates or in early childhood, and has been completely reversed in patients following dietary supplementation with medium-chain triglycerides.

Reference
Knottnerus SJG, et al. Rev Endocr Metab Disord. 2018;19:93–106.

Question 4/5
Your 3-year-old patient with a long-chain fatty acid oxidation disorder is receiving nutritional supplementation with 30% of energy from medium-chain triglycerides and 10% from natural fats, but experiences an extended period of severe diarrhoea. How would you manage their metabolic status while investigating and treating the diarrhoea?
Correct

Illness places increased metabolic stress on patients and metabolic treatment should focus on supporting their energy intake with carbohydrates, via intravenous infusion if necessary.

Reference
Merritt JL II, et al. Ann Transl Med. 2018;6:473.

Question 5/5
How does medium-chain fatty acid supplementation support patients with long-chain fatty acid oxidation disorders?
Correct

Medium-chain triglycerides can be metabolized by fatty acid oxidation enzymes distinct from those affected by long-chain fatty acid oxidation disorders.

Reference
Vockley J, et al. Mol Genet Metab. 2017;120:370–7.

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