Long-Chain Fatty Acid Oxidation Disorder (FAOD)
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.
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. This can lead to potentially severe complications such as breakdown of muscle fibers into the blood, low blood sugar, muscle weakness, decreased muscle tone and heart-muscle weakness.
There are currently no approved drugs or treatments specifically for LC-FAOD, and treatment options for FAODs in general are limited. Some people are able to manage their health by avoiding fasting; following a low fat diet; using a partially man-made triglyceride (fat) oil called medium-length, even-chain triglyceride (MCT) oil; and/or taking prescribed carnitine to help their body make energy.
Ultragenyx is studying investigational UX007 (triheptanoin), a purified form of a specially designed synthetic triglyceride compound, for the treatment of LC-FAOD.
Several thousand people in the U.S have FAODs. Early diagnosis is possible, as newborns are now screened for FAOD in the U.S.
Common types of LC-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