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On the left are the symptoms of CPT1A deficiency gathered from Genetic and Rare Diseases (GARD) Information Center (https://rarediseases.info.nih.gov/). On the right is the confirmatory screening process for CPT1A deficiency diagnosis. The normal value of the C0/(C16 + C18) ratio is 278.75; Total carnitine is normal at 33–70 mmol/L and free carnitine is normal at 28–52 mmol/L (Dowsett et al., 2017).
