Biomaterial Database

Late-onset form of partial N-acetylglutamate synthetase deficiency. 1990

O N Elpeleg, and J P Colombo, and N Amir, and C Bachmann, and H Hurvitz

Department of Paediatrics, Bikur-Cholim Hospital, Jerusalem, Israel.

A 13-month-old female presented with neurological deterioration of 1 month duration and hyperammonaemia. N-acetylglutamate synthetase activity in the liver was reduced to 33% of the control. A male cousin and a female sister had died following a similar clinical course. This is the first report of late-onset N-acetylglutamate synthetase deficiency. An autosomal-recessive mode of inheritance is suggested.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008099	Liver	A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.	Livers
D005260	Female		Females
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
D000367	Age Factors	Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.	Age Reporting,Age Factor,Factor, Age,Factors, Age
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
D000596	Amino Acids	Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins.	Amino Acid,Acid, Amino,Acids, Amino
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.
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