doctor treating FAOD

 

Fatty acid oxidation disorders (FAODs) are rare disorders, but if you or someone you know was diagnosed with one of these inborn errors of metabolism, you might be wondering what can be done.

Is There a Cure for Fatty Acid Oxidation Disorders?

Unfortunately, at this point, there is no cure for fatty acid oxidation disorders. These disorders can range in severity, but they are sometimes manageable. While more severe cases can be fatal, with infants dying in a matter of days, other people are able to live well into adulthood by following the right plan.

 

Nowadays, FAOD’s are often diagnosed with newborn screening. This early screening can lead to a treatment plan that can help manage symptoms of fatty acid oxidation disorders and decrease the number of deaths in infancy. For example, the MCAD deficiency historically had a mortality rate over 20%, but after newborn screening for these disorders was implemented, this rate decreased to around 5%.1

 

Managing & Treating Fatty Acid Oxidation Disorders

While these disorders can come with life-threatening symptoms, early diagnosis and the development of a good treatment plan can help lessen these threats. Someone who is diagnosed with a fatty acid oxidation disorder may be able to live a mostly normal life, but managing fatty acid oxidation disorders does require special considerations.

 

In order to treat fatty acid oxidation disorders and manage these symptoms, a person will likely have to follow a specific treatment plan that includes:

 

  • Regular check-ups
  • A specific diet for fatty acid oxidation disorders
  • special supplements or vitamins
  • Avoiding fasting and following a strict eating schedule
  • Checking blood sugar levels regularly
  • Not overexerting themselves in exercise

 

Even by following this strict treatment plan, people with these disorders may experience complications that require immediate medical attention. Fatty acid oxidation disorders can also be accompanied by secondary issues that need their own treatment plans. For example, rhabdomyolysis from fatty acid oxidation disorders is a life-threatening muscle disorder that may need to be addressed on its own. Other FAODs may lead to neurological or cardiovascular problems that require specific treatment or attention.

 

While there is currently no cure for theses disorders, new research on inborn errors of metabolism is always underway, and progress has been made. Experimental studies on how to treat fatty acid oxidation disorders are in progress, and at the International Network for Fatty Acid Oxidation Research and Management (INFORM), we are hopeful for the future.

 

Sources:

  1. NCBI – Fatty acid oxidation disorders