Advances in glycogenosis type 2 and fatty acid oxidation disorders

In Glycogenosis type 2, Enzyme replacement therapy (ERT) is an effective treatment for classic infantile and late-onset Pompe patients. ERT positively affects muscle strength and pulmonary function in both infantile (IOPD) and adult patients. In adult late-onset Pompe (LOPD) patients, maximal ERT efficacy with al-glucosidase was observed in the first two to three years, and then it declined. Regarding cost-effectiveness, ERT does not appear to be proven, excluding several countries from such treatment. Fatty acid oxidation disorders are treated by carnitine or riboflavin supplements. And the therapy is cost-effective, restoring muscle strength and decreasing lipid droplets in muscle fibers. Prospects of ERT treatment include using improved enzyme preparations in patients as the new avalglucosidase alfa with improved mannose-6-phosphate (M6P)-receptor targeting and enzyme uptake. Next-generation ERT (NG-ERT) was designed for optimal tissue uptake. Disease modifiers, diet, and exercise are winning strategies. Fatty acid oxidation disorders are treatable and diagnosable entities.