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Diarrhea : Frequent, watery bowel movements that can result in dehydration and electrolyte imbalance

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4 Future challenges 4.1 Mechanistic validation across ocular pathologies Despite progress in understanding molecular pathways such as calcium channel modulation and mitochondrial mitophagy, the relative contributions of these mechanisms to specific diseases remain unclear

In macrophages with the M1-like phenotype, arginine is converted into nitric oxide (NO) and citrulline via inducible nitric oxide synthase (iNOS), and this anabolic pathway is closely associated with macrophage cytotoxicity and antitumor effects

5.1.3 Carnitine-acylcarnitine translocase (CACT) deficiency Clinical presentation Patients with CACT deficiency (OMIM 212138) usually present in the neonatal period with severe hyperammonemia, liver failure, cardiomyopathy and respiratory distress, often with fatal outcome [23, 24, 102, 103]