In Fatty Acid Oxidation Disorders (FAODs), the body suffers from an energy deficiency during conditions such as fasting, prolonged exercise and infection. This creates a metabolic stress for the body and causes the symptoms characteristic of FAOD. Some severe FAODs can present in infancy but symptoms can differ based upon age, diagnosis and the severity of the metabolic stress.
Common symptoms associated with FAODs include:
- Muscle cramps and pain
- Muscle weakness
- Foggy thinking
- Poorly functioning heart (cardiomyopathy or arrhythmias)
- Fatty, dysfunctional liver
Caregivers and patients with FAODs should be aware of and watch for symptoms of a metabolic crisis including:
- Acute muscle pain and weakness
- Poor feeding or changes in appetite
- Lethargy or unresponsiveness
- Irregular heartbeat
Symptoms can be triggered or worsened by fasting, illness, prolonged exercise, and other physiological stress. These factors can lead to the following if not managed:
- Low glucose or low sugar (hypoglycemia), and usually low ketones
- Muscle breakdown (rhabdomyolysis), presenting as dark urine (myoglobinuria)
- Heart muscle damage (cardiomyopathy or arrhythmias)
Sudden Infant Death Syndrome (SIDS) can occur in certain FAODs, usually in undiagnosed infants. Newborn screening helps identify patients before they become symptomatic, reducing the chance of illness and death.
You should always consult your medical team if you or your child experience severe symptoms in order to determine the best course of action.