The Urea Cycle Disorders section contains posts that cover the biochemistry, pathology, and molecular biology of the disorders that result due to mutations in genes encoding the enzymes of the urea cycle.
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...
Last Updated: October 28, 2025 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...
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....
Last Updated: October 30, 2025 Introduction to Argininosuccinate Synthetase Deficiency Arginosuccinate synthetase deficiency (ASD) is an autosomal recessive disorder of the urea cycle that also affects the synthesis of arginine. This disorder is more commonly referred...
Last Updated: October 30, 2025 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...
Last Updated: November 11, 2025 Introduction to CPS1 Deficiency Carbamoyl phosphate synthetase 1 deficiency (CPSD) is an autosomal recessive disorder that, as the name implies, is due to mutations in the gene (CPS1) encoding the urea cycle enzyme, carbamoyl phosphate...
Last Updated: February 13, 2026 Introduction to the Urea Cycle Disorders (UCD) A complete lack of any one of the enzymes of the urea cycle is associated with an significant increase in the likelihood for death shortly after birth. Nonetheless, deficiencies in each of...