Research History

Disorders of fatty acid oxidation and of the carnitine cycle are an important cause of morbidity and mortality. With the introduction of expanded newborn screening, many of these conditions can be diagnosed and treated at birth, preventing several of the complications. Treatment of these conditions may include fasting-avoidance, diets low in fat containing specific fatty acids, and carnitine supplements. New types of therapies, nutritional and pharmacological, are being tested in humans and animal models of these conditions. Unfortunately, treatment is only partially effective for some conditions and we still do not understand completely the pathophysiology of end-organ damage caused by these inherited disorders.

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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.

More Information

*This content is intended for healthcare professionals. In order to receive credit for this activity, participants must review and complete the post-test and evaluation form. Date of original release: March 31, 2020. Date credits expire: March 31, 2021.

FAOD Diagnosis

Read about the Medical Diagnosis, Signs & Symptoms, Genetics and Treatment of the 12 FAOD’s.

FAOD Diagnosis
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Research

INFORM Virtual Tissue Bank, (VTB), grew out of the desire to share research sample information and testing results to help advance the diagnosis and treatment of disorders of fatty acid oxidation and the carnitine cycle in order to increase knowledge and help patients worldwide.

  • View Research – Knowledge is power

  • Add Research – Sharing is caring

  • Register for the Virtual Tissue Bank – To view and add research

The information in the VTB is only able to be accessed by registered Principal Investigators and their research teams.

Virtual Tissue Bank
How to Register

Publications

Below are professional publications as they relate to each individual diagnosis. As we receive them from the PI’s they will be added to the appropriate section.

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Meeting

The objective of the INFORM meeting will speak to and discuss the proper diagnostic interpretation of laboratory testing, development of new therapeutic strategies, and on the role of newborn screening ​in preventing complications. It will also serve as the annual gathering of INFORM researchers worldwide.

  • Agenda – Dates and Session information

  • Registration – ​​INFORM 2020 has gone VIRTUAL!

  • Sponsorship – Current sponsors and sponsorship opportunity

Annual Meeting

2019 INFORM Meeting Photos

Abstracts

2016 Abstracts
2017 Abstracts
2018 Abstracts
2019 Abstracts

Unlocking the Future

We are committed to discovering new FAOD treatments and cures to improve the lives of our patients and their families.

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