Also known as carnitine palmitoyltransferase (CPT I and II) deficiency, very long chain acyl-CoA dehydrogenase (VLCAD) deficiency, long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) deficiency, trifunctional protein (TFP) deficiency and carnitine acylcarnitine translocase (CACT) deficiency.
What is it?
Long-chain fatty acid oxidation disorders are a group of rare conditions that impair the body’s metabolism from breaking down certain fats from food into energy.
What Causes It?
The body typically uses many nutrients (such as glucose (sugar)) for energy, including fat. People with fatty acid oxidation disorders (FAOD) cannot use certain fats for energy.
What Are Some Common Symptoms?1, 2
- Low ketone levels ©
- Low blood sugar
- Muscle weakness
- Increase muscle pain
- Shortness of breath
- Chest pain
How Many People Have It?
It is estimated that 2,000 to 3,500 people are living with LC-FAOD in the U.S.2
- Vockley, J. What is Rhabdomyolusis? INFORM Network Website. Published December 20, 2019. Accessed October 31, 2021. https://informnetwork.org/2019/12/20/rhabdomyolysis-from-fatty-acid-oxidation-disorders/
- Ultragenyx Pharmaceutical Inc. Data on file. 2019.
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Participate in Events Near YouLC-FAOD Patient Advocacy Groups*
*These organizations are an incomplete listing of rare disease advocacy groups 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 [email protected].
Rare Experiences
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LC-FAOD Community Voices
Long-chain Fatty Acid Oxidation Disorder (LC-FAOD)“We may be kilometers apart, but I’m walking the same path as you.”
Myriam and Victoria
Long-chain Fatty Acid Oxidation Disorder (LC-FAOD)“We are parents, not doctors, but we fight for our children.”
