Abstract

Fatty acid oxidation (FAO) disorders show a wide variety of clinical phenotypes, degrees of severity, age of onset, organ involvement, and long-term survival, which may range from severe, fatal neonatal to adolescent/adult onset with recurrent rhabdomyolysis. The phenotype in defects of long-chain FAOs includes fasting and stress induced hypoketotic hypoglycemia, cardiomyopathy and arrhythmias, skeletal myopathy and recurrent rhabdomyolysis, progressive axonal peripheral neuropathy, and degenerative retinopathy.

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