PYCR2 and Other metabolic disease: We identified other inherited metabolic disorders including pyridoxine-dependent epilepsy (PDE) due to biallelic variants in ALDH7A1 [4], PYCR2 disease [16], EARS2 disease [17], PARS2 disease [17], CLN7 disease, and glucose transporter 1 deficiency syndrome with or without liver dysfunction in our study cohort.