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Carnitine acetyltransferase (CrAT) can act as safety valve to catalyze the reversible transfer of acetyl groups between acetyl-CoA and acetylcarnitine, promoting the combination of excess acyl groups with carnitine, increasing the membrane permeability of these products and thus removing them from the mitochondria, allowing acylcarnitine to be formed in the mitochondrial matrix and exported to the plasma [7]

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The differential diagnosis is broad because symptoms can be due to gastrointestinal (malrotation, gastroparesis), intracranial (intracranial masses, hydrocephaly), or abdominal (renal colic) disorders, or to metabolic (fatty acid oxidation or urea cycle disorders, mitochondrial dysfunction) or drug/toxin (CHS) alterations.77 Laboratory, radiographic, and endoscopic tests detect a substantial number of these differential diagnoses

Signs of a Carnitine Deficiency: Decreased or floppy muscle tone or muscle weakness

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Short chain acylcarnitines have attracted a lot of attention in the context of diabetes and insulin resistance, with acetylcarnitine playing again a central role as a master regulator of energy metabolism strategies