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A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate. 1995

N Guffon, and C Vianey-Saban, and J Bourgeois, and D Rabier, and J P Colombo, and P Guibaud
Centre d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon, France.

N-Acetylglutamate synthase (NAGS) deficiency is a rare, autosomal recessive urea-cycle disease. Its clinical presentation is not different from the other hereditary hyperammonaemias. We report a new neonatal case with hyperammonaemic coma. A test by carbamylglutamate was performed at 25 days of life. Since then, the child was treated by carbamylglutamate three or four times a day with a total dose of 80-100 mg/kg per day. Today, the boy is 1 year old. He receives carbamylglutamate 200 mg four times a day. He has normal somatic and neurological development and good metabolic balance.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D005971 Glutamates Derivatives of GLUTAMIC ACID. Included under this heading are a broad variety of acid forms, salts, esters, and amides that contain the 2-aminopentanedioic acid structure. Glutamic Acid Derivatives,Glutamic Acids,Glutaminic Acids
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
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
D020163 Ornithine Carbamoyltransferase Deficiency Disease An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50) OTC Deficiency,Ornithine Transcarbamylase Deficiency,Ornithine Transcarbamylase Deficiency Disease,Deficiency Disease, Ornithine Carbamoyltransferase,Deficiency Disease, Ornithine Transcarbamylase,Ornithine Carbamoyltransferase Deficiency,Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To,Deficiencies, OTC,Deficiencies, Ornithine Transcarbamylase,Deficiency, OTC,Deficiency, Ornithine Transcarbamylase,OTC Deficiencies,Ornithine Transcarbamylase Deficiencies

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