Carbamoyl phosphate synthetase 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
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.…