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Metabolic screening should be promptly performed for urea cycle defects, fatty acid oxidation, amino acid metabolism, and mitochondrial disorders
This indication affects about 22 million people in the U.S
Genetic insights may support conversations with your provider about personalized metabolic approaches
POLG-related disorders should be suspected in patients with a family history or suggestive symptoms of a POLG-related disorder, including but not limited to unexplained encephalopathy, refractory epilepsy (focal, myoclonic), status epilepticus at presentation, developmental delays, psychomotor regression, axonal sensorimotor neuropathy, myopathy cerebellar ataxia, ophthalmoplegia, or complicated migraine with occipital aura
