Diseases and Disorders, Diseases of Amino Acid and Organic Acid Metabolism, Urea Cycle Disorders
Last Updated: July 13, 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 the...
Diseases and Disorders, Diseases of Amino Acid and Organic Acid Metabolism, Urea Cycle Disorders
Last Updated: July 13, 2026 Introduction to Argininosuccinate Lyase Deficiency As the name implies, argininosuccinate lyase deficiency (ALD) is a disorder resulting from pathogenic variants 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: July 13, 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...
Diseases and Disorders, Diseases of Amino Acid and Organic Acid Metabolism, Urea Cycle Disorders
Last Updated: July 13, 2026 Introduction to OTC Deficiency Deficiencies in each of the enzymes of the urea cycle have been identified. Collectively, these enzyme deficiencies lead to a family of disorders referred to as the urea cycle disorders (UCD). The most...
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...
