Clinician and Patient Perspectives in the Management of Long-Chain Fatty Acid Oxidation Disorders

While avoiding catabolism and always maintaining anabolism are key to managing patients with fatty acid oxidation disorders, meeting dietary fat requirements using medium-chain triglycerides or anaplerotic therapy has proven important also for the management of these patients.

In a study following 12 patients with different LC-FAODs given anaplerotic therapy with triheptanoin, how many patients were reported to remain in a clinically stable condition?

Which of the following is considered a red flag that allows to distinguish patients with very-long-chain acyl-CoA dehydrogenase (VLCAD) from other LC-FAODs?

The mother of one of your pediatric patients with LCHAD deficiency diagnosed since birth calls into the metabolic outpatient clinic because she has been complaining on increasing hypoesthesia on the legs.

Which specialty should she be referred to for further evaluation?

A study with the emerging treatment REN001 in patients with LCHAD, CPT2, and VLCAD, reported an increase of 73.7 m and 51.9 m in the 12-minute walk test respectively in which group of patients?