Inborn errors of metabolism with myopathy: defects of fatty acid oxidation and the carnitine shuttle system
A El-Gharbawy, J Vockley - Pediatric Clinics, 2018 - pediatric.theclinics.com
Muscle tissue (heart and skeletal) has a high energy demand to perform essential functions
such as ionic homeostasis and contractility. Metabolic fuels for the generation of adenosine
triphosphate (ATP) come from different sources, including glucose, free fatty acids, pyruvate,
lactate, and ketone body metabolism, and to a lesser extent from amino acids. 1, 2 Fatty
acids are used as an alternative energy source when glucose is not available. In fetal heart
and immediately after birth,
such as ionic homeostasis and contractility. Metabolic fuels for the generation of adenosine
triphosphate (ATP) come from different sources, including glucose, free fatty acids, pyruvate,
lactate, and ketone body metabolism, and to a lesser extent from amino acids. 1, 2 Fatty
acids are used as an alternative energy source when glucose is not available. In fetal heart
and immediately after birth,