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Hyperammonemia, type III

Known as: aga deficiency, N-Acetylglutamate Synthetase Deficiency, N acetyl glutamate synthetase deficiency 
An autosomal recessive disorder caused by mutation(s) in the NAGS gene, encoding N-acetylglutamate synthase, mitochondrial. It may be characterized… 
National Institutes of Health

Related topics

Related topics

15 relations
Adrenal hyperplasiaAggressive behaviorAutosomal recessive inheritanceComatose

Broader (2)

Amino Acid N-AcetyltransferaseUrea Cycle Disorders, Inborn

Papers overview

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2012
2012
Transcriptional Regulation of N-Acetylglutamate Synthase and its Clinical Relevance
2010
2010
適合溶質シトルリン生合成の鍵酵素N-acetylglutamate kinase
2008
2008
Carglumic acid: a second look. Confirmed progress in a rare urea cycle disorder.
  • Prescrire international
  • 2008
  • Corpus ID: 21184526
(1) N-acetylglutamate synthase deficiency is a rare congenital disorder that causes hyperammonaemic comas, resulting in severe… 
2005
2005
L- arginine, manufacturing method of l- ornithine or l- citrulline
According to the present invention, (i) SEQ ID NO: 1 in the amino acid sequence one or more amino acids from the N-terminal amino… 
2004
2004
Proline production via the arginine biosynthetic pathway: transfer of regulatory mutations of arginine biosynthesis into a proline-producing strain ofSerratia marcescens
SummaryProline production via a part of the arginine biosynthetic pathway was examined. About 20 mg/ml ofl-proline was produced… 
2004
2004
SCIENTIFIC DISCUSSION This module reflects the initial scientific discussion for the approval of Carbaglu. For information on changes after approval please refer to module 8. 1. Introduction Carbaglu…
  • 2004
  • Corpus ID: 45464911
N-acetylglutamate synthase (NAGS) deficiency is a very rare inborn error of metabolism. Over the last 20 years, between 1980 and… 
1986
1986
Proline production via the arginine biosynthetic pathway: transfer of regulatory mutations of arginine biosynthesis into a proline-producing strain ofSerratia marcescens
SummaryProline production via a part of the arginine biosynthetic pathway was examined. About 20 mg/ml ofl-proline was produced… 
1985
1985
Construction of an arginine-producing strain of Serratia marcescens
SummaryIn Serratia marcescens Sr41, l-canavanine was demonstrated to be a weak cell growth inhibitor in minimal medium containing… 
1966
1966
[Clinical use of dimethylaminoethyl acetylglutamate].
1964
1964
[CLINICAL STUDY OF DIMETHYLAMINOETHANOL ACETYLGLUTAMATE IN ADULTS AND AGED PERSONS].