DWQA QuestionsCategory: QuestionsEvidence for FAOD Diagnosis
Amanda Hill asked 5 months ago
What evidence is needed for the diagnosis of a FAOD? I have a history of Rhabdo, exercise intolerance, and arm fatigue with an abnormal acylcarnitine profile. However, genetic testing and muscle biopsy were normal with no VUS either. Physicians seem to have conflicting opinions on the diagnostic utility of plasma acylcarnitine, ranging from it being the most sensitive of tests to the least. Looking to get insight on if I might have a (currently) unknown FAOD, any advice for lifestyle adjustments (high carb not making enough impact, B complex led to noticeable improvement), and any advice for genetic specialists to see (I am regularly turned away given no positive genetic results and/or because I am an adult).  Thanks in advance.

1 Answers
Keith McIntire answered 5 months ago
The primary diagnostic test for a symptomatic fatty acid oxidation disorder is an acylcarnitine profile, but they can be non-diagnostic.
It should be followed up by molecular testing of the genes known to cause rhabdomyolysis.
We’ll be in touch privately with the name of a clinic in Houston that can see you. I hope this helps. Dr. Vockley