About a week after her son Jake was born, doctors told Michelle that he had long-chain L-3 hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, a long-chain fatty acid oxidation disorder. The doctors explained that he would survive a few years at most, if they were lucky. Fortunately, with the help of a metabolic specialist and a dietitian, Michelle learned that through diet, frequent feeding, and a close watch, she and Jake could manage the disease together and move forward. Jake is now a teenager who loves to swim and draw. Each day, he proves that with proper care, people with LCHAD can live a full life.

Long-Chain Fatty Acid Oxidation Disorder (FAOD)

What is it?

Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare conditions that prevent the body from breaking down certain fats into energy.

What causes it?

The body typically uses glucose (sugar) for energy, but also gets energy from fat when it uses up available glucose. People with fatty acid oxidation disorders (FAOD) cannot use fat for energy.

What are some of the common symptoms?

  • Muscle rupture
  • Low blood sugar
  • Muscle weakness
  • Decreased muscle tone
  • Disease of the heart muscle

How many people have it?

It is estimated that 1 in 9,300 people in the U.S., Australia, and Germany have FAOD.1

Most common types of long-chain FAOD

  • Carnitine Palmitoyltransferase (CPT I or CPT II) Deficiency
  • Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
  • Long-chain 3-hydroxy-acyl-CoA Dehydrogenase (LCHAD) Deficiency
  • Trifunctional Protein (TFP) Deficiency

1Lindner M, Hoffmann GF, Matern D. Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting. J Inherit Metab Dis. 2010;33(5):521-526.

*These organizations are an incomplete listing of rare disease support organizations and are not controlled by, endorsed by, or affiliated with Ultragenyx Pharmaceutical Inc. The list is meant for informational purposes only and is not intended to replace your healthcare professional’s medical advice. Ask your doctor or nurse any questions you may have about your disease or treatment plan. If you would like to have your group added to the list, please contact patientadvocacy@ultragenyx.com.