The pathophysiology of hyperinsulinism in CDG has not been defined yet, however, according to a recent systematic review conducted on 933 PMM2-CDG patients, all hyperinsulinemic patients who received diazoxide were reported to respond well (132)
Deglutathionylation of 2-Cys peroxiredoxin is specifically catalyzed by sulfiredoxin
Subsequently, at the distal part of the colon, tyrosine, phenylalanine, and tryptophan amino acids from endogenous, dietary, or microbial metabolism (Koppe et al., 2018) are utilized by bacteria for growth, metabolizing them to various end products, including indoles and phenols, which serve as precursors for the formation of cardio- and neuro-toxic uremic toxins (Krukowski et al., 2023)
Most people tolerate wellness IVs well