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About This Activity

Activity Description and Learning Objectives

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.

After watching this activity, participants should be better able to:

Target Audience

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

Faculty 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.

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.

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Q1. Mutations in which enzymes result in long-chain fatty acid oxidation disorders?

  1. A. Enzymes which oversee fat transport across the intestinal wall
  2. B. Enzymes which stimulate the release of fatty acids from adipose tissue
  3. C. Enzymes involved in mitochondrial β-oxidation or fatty acid transport into mitochondria
  4. D. Enzymes responsible for the uptake of vitamins which assist fat metabolism

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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.

Q2. Why do long-chain fatty acid oxidation disorders cause symptoms in patients?

  1. A. Because unmetabolized fat stores sequester vital fat-soluble vitamins, effectively causing their deficiency
  2. B. Via energy deficiency and the accumulation of metabolic products
  3. C. Unrestrained metabolism of fats rapidly depletes energy stores
  4. D. Dietary fat cannot be absorbed, leading to insufficient energy from metabolism

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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.

Q3. How should cardiomyopathy be approached in neonates with long-chain fatty acid oxidation disorders?

  1. A. Dietary modification with medium-chain triglycerides should be initiated
  2. B. Carnitine supplementation is essential to prevent progression of the disease
  3. C. Cardiomyopathy does not manifest in the neonatal period and only occurs later in life in situations of fasting and weight loss
  4. D. Cardiomyopathy with onset in the neonatal period is mostly irreversible and eventually requires heart transplantation.

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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.

Q4. 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?

  1. A. Carry on as normal, with increased fluids and electrolytes support
  2. B. Provide intravenous dextrose to support fluid requirements and provide calories
  3. C. Recommend fasting until the diarrhoea subsides
  4. D. Add/increase carnitine supplementation

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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.

Q5. How does medium-chain fatty acid supplementation support patients with long-chain fatty acid oxidation disorders?

  1. A. Medium-chain triglycerides typically provide more energy per gram than long-chain triglycerides
  2. B. Medium-chain triglycerides are a good source of long-term energy to enable prolonged fasting periods
  3. C. Medium-chain triglycerides directly provide fuel for medium-chain fatty acid oxidation and bypass faulty long-chain fatty acid metabolism
  4. D. Medium-chain triglycerides are sourced only from plant, as opposed to animal, material

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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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touchEXPERT OPINIONS

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

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Introduction

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.

Dr Barbara Burton, Northwestern University Feinberg School of Medicine, Chicago, IL, USA, provides an overview of fatty acid oxidation within normal metabolism and the causes of fatty acid oxidation disorders (FAOD). Prof. Dr. Ute Spiekerkötter, University Children’s Hospital, Freiburg, Germany, discusses possible symptoms of long-chain FAOD (LC-FAOD) and how symptomatic patients are diagnosed, as well as the diagnosis of asymptomatic patients. Dr Jerry Vockley, Children’s Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA, describes the nutritional management of LC-FAOD and considers possible future treatments.

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

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