Diseases and Disorders, Urea Cycle Disorders
Last Updated: March 25, 2026 Introduction to NAGS Deficiency N-acetylglutamate synthase deficiency (NAGSD) is most commonly the result of the inheritance of mutations in the NAGS gene which encodes N-acetylglutamate synthase. NAGSD manifests in two forms identified as...
Biochemistry Topics, Nitrogen Metabolism
Last Updated: February 19, 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: February 19, 2026 Introduction to Arginase Deficiency Arginase deficiency (AD) represents one of the disorders that result from defects in the processes of the urea cycle. Arginase deficiency is a rare autosomal recessive disorder. Arginase deficiency is...
Diseases and Disorders, Diseases of Amino Acid and Organic Acid Metabolism, Urea Cycle Disorders
Last Updated: October 30, 2025 Introduction to Argininosuccinate Lyase Deficiency As the name implies, argininosuccinate lyase deficiency (ALD) is a disorder resulting from mutations in the gene (ASL) encoding the urea cycle enzyme, argininosuccinate lyase....
Diseases and Disorders, Diseases of Amino Acid and Organic Acid Metabolism, Urea Cycle Disorders
Last Updated: February 16, 2026 Introduction to Argininosuccinate Synthetase Deficiency Arginosuccinate synthetase (also identified as argininosuccinate synthase) deficiency (ASD) is an autosomal recessive disorder of the urea cycle that also affects the synthesis of...
