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These features provide further evidence that CDSP presents with a broad clinical spectrum from an infant with metabolic decompensation to an asymptomatic adult

Insufficient ATP production by the mitochondria and nutrient depletion activate the AMP-activated protein kinase (AMPK) [253], which initiates autophagy by phosphorylating and activating the components of the autophagy-activating protein complex and inhibiting the activity of mTORC1