Peroxisomal disorders are a group of inherited metabolic diseases characterized by dysfunctional peroxisomes, cellular organelles essential for lipid metabolism, including bile acid synthesis. A deficiency
Carbamoyl phosphate synthetase deficiency (CPS1 deficiency) is a rare genetic disorder that disrupts the urea cycle, leading to an inability to effectively eliminate ammonia from
Biotinidase deficiency (BTD) is a rare genetic disorder that affects the body’s ability to recycle biotin, a crucial water-soluble vitamin also known as vitamin B7.