LC-FAOD

What are Long-Chain Fatty Acid Oxidation Disorders?

Long-chain fatty acid oxidation disorders (FAOD) are a group of autosomal recessive conditions that prevent the body from breaking down long-chain fatty acids into energy.

Beginning from early in life to as late as teenage or adulthood, patients with FAOD present with acute crises of energy metabolism and severe energy deficiency. This can lead to potentially severe complications:

Rhabdomyolysis (breakdown of muscle fibers into the blood)
Low blood sugar (hypoglycemia)
Decreased muscle tone (hypotonia) and weakness
Heart muscle weakness (cardiomyopathy)

Several thousand people in the US have long-chain FAODs, which include six genetic conditions where a certain enzyme is missing or not working correctly. The most common four are:

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

Early diagnosis is possible, as newborns are now screened for FAOD in the US.

Treatments

There are currently no approved drugs or treatments specifically for LC-FAOD. Some people are able to manage their health by avoiding fasting, following a low fat diet, using a medium-length, even-chain triglyceride (MCT) oil and/or taking prescribed carnitine.

UX007, a highly purified form of a synthetic seven carbon fatty acid triglyceride compound, is an investigational product that is being studied for the treatment of LC-FAOD. It is intended to provide people with LC-FAOD with medium-length, odd-chain fatty acids that are metabolized to bypass faulty pathways and provide an alternative energy source.