Diseases and Disorders, Urea Cycle Disorders
Last Updated: February 13, 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...
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....