N-acetylglutamate synthetase (NAGS) deficiency. 1994

J P Colombo
Dept. of Clinical Chemistry, Inselspital, University of Berne, Switzerland.

UI MeSH Term Description Entries
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000123 Acetyltransferases Enzymes catalyzing the transfer of an acetyl group, usually from acetyl coenzyme A, to another compound. EC 2.3.1. Acetyltransferase
D000592 Amino Acid Metabolism, Inborn Errors Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life. Amino Acidopathies, Congenital,Amino Acid Metabolism Disorders, Inborn,Amino Acid Metabolism, Inborn Error,Amino Acid Metabolism, Inherited Disorders,Amino Acidopathies, Inborn,Congenital Amino Acidopathies,Inborn Errors, Amino Acid Metabolism,Inherited Errors of Amino Acid Metabolism,Amino Acidopathy, Congenital,Amino Acidopathy, Inborn,Congenital Amino Acidopathy,Inborn Amino Acidopathies,Inborn Amino Acidopathy
D000641 Ammonia A colorless alkaline gas. It is formed in the body during decomposition of organic materials during a large number of metabolically important reactions. Note that the aqueous form of ammonia is referred to as AMMONIUM HYDROXIDE.
D000818 Animals Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA. Animal,Metazoa,Animalia
D014508 Urea A compound formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids. Basodexan,Carbamide,Carmol
D051046 Amino-Acid N-Acetyltransferase A mitochondrial matrix enzyme that catalyzes the synthesis of L-GLUTAMATE to N-acetyl-L-glutamate in the presence of ACETYL-COA. Acetyl CoA Glutamate N-Acetyltransferase,Acetyl Coenzyme A Glutamate N-Acetyltransferase,Amino Acid Acetyltransferase,Amino-Acid Acetyltransferase,N-Acetyl-L-Glutamate Synthetase,N-Acetylglutamate Synthase,N-Acetylglutamate Synthetase,Acetyl CoA Glutamate N Acetyltransferase,Acetyl Coenzyme A Glutamate N Acetyltransferase,Acetyltransferase, Amino Acid,Acetyltransferase, Amino-Acid,Acid Acetyltransferase, Amino,Amino Acid N Acetyltransferase,N Acetyl L Glutamate Synthetase,N Acetylglutamate Synthase,N Acetylglutamate Synthetase,N-Acetyltransferase, Amino-Acid,Synthase, N-Acetylglutamate,Synthetase, N-Acetyl-L-Glutamate,Synthetase, N-Acetylglutamate

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