Diseases and Disorders, Urea Cycle Disorders
Last Updated: August 3 2026 Introduction to NAGS Deficiency N-acetylglutamate synthase deficiency (NAGSD) is most commonly the result of the inheritance of pathogenic variants in the NAGS gene which encodes N-acetylglutamate synthase. NAGSD manifests in two forms...
Biochemistry Topics, Nitrogen Metabolism
Last Updated: August 21, 2026 Introduction to Nitrogen Homeostasis and the Urea Cycle The processes of nitrogen metabolism, which includes the urea cycle to remove waste nitrogen, are critical to the survival of humans given that excess nitrogen, in the form of...
Diseases and Disorders, Diseases of Amino Acid and Organic Acid Metabolism, Urea Cycle Disorders
Last Updated: July 13, 2026 Introduction to CPS1 Deficiency Carbamoyl phosphate synthetase 1 deficiency (CPSD) is an autosomal recessive disorder that, as the name implies, is due to pathogenic variants in the gene (CPS1) encoding the urea cycle enzyme, carbamoyl...
