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Myristoyl-L-carnitine may be useful as a marker in the diagnosis of genetic metabolic disorders and is a potential marker for very-long-chain coenzyme A dehydrogenase deficiency (VLCADD)

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Patients with psoriasis exhibit elevated glutamine levels and augmented expression of enzymes linked with glutamine compared to their healthy counterparts (109)

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CACT deficiency presents in most cases in the neonatal period with hypoglycemia, hyperammonemia, and cardiomyopathy with arrhythmia leading to cardiac arrest