During the past few decades, liver disease has emerged as one of the primary global causes of disease and mortality, causing over 2 million deaths each year (Rahimifard et al., 2020)
This can occur in disorders of the carnitine cycle (carnitine-acylcarnitine translocase [CACT] or carnitine palmitoyl transferase 2 [CPT-2] deficiency) and fatty acid oxidation (MCAD, VLCAD, LCHAD, TFP deficiency), organic acidemias (propionic, methylmalonic, isovaleric, and glutaric acidemia, 3-methylcrotonylglycinuria, multiple carboxylase deficiency, and other more rare), renal disease (renal Fanconi syndrome, chronic renal failure, dialysis), lysinuric protein intolerance (LPI), chronic ketosis or ketogenic diet, extreme prematurity, prolonged use of intravenous nutrition not supplemented by carnitine, and drug therapy (valproic acid, phenobarbital, phenytoin, carbamazepine, drugs containing pivalic acid)
Enhancement of EPR Effect for Passive Tumor Targeting: Current Status and Future Perspectives
While oral NAC would be the first mutation-independent therapy available for RP patients, additional options with less frequent and more targeted dosing would be advantageous to patients managing a life-long chronic disease