Abstract
Long-chain fatty acid oxidation disorders (LC-FAOD) are rare, life-threatening, autosomal recessive conditions that impair the utilization of fats for energy production. LC-FAOD may initially be suspected based on clinical symptoms or positive results from newborn screening and can be confirmed clinically with plasma acylcarnitine analysis and molecular testing. Undiagnosed LC-FAOD may present with hypoglycemia, cardiomyopathy, cardiac arrhythmias, and with neuromuscular involvement, including rhabdomyolysis and myopathy.
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