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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

2003-2018
02420032018

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
N-acetylglutamate synthase deficiency (NAGSD) is an extremely rare urea cycle disorder (UCD) with few adult cases so far… (More)
Is this relevant?
2017
2017
A 59-year-old woman, with a medical history of intellectual disability after perinatal asphyxia, was admitted because of coma due… (More)
Is this relevant?
2017
2017
A girl born at term was admitted to the neonatal intensive care unit because of mild respiratory distress after a complicated… (More)
Is this relevant?
2016
2016
N-acetyl-L-glutamate synthase (NAGS) deficiency (NAGSD), the rarest urea cycle defect, is clinically indistinguishable from… (More)
Is this relevant?
2016
2016
OBJECTIVE To investigate the hypothesis that fetal abdominal circumference (AC) and uterine artery (UtA) Doppler pulsatility… (More)
Is this relevant?
Review
2016
Review
2016
The Urea Cycle Disorders Consortium (UCDC) has conducted, beginning in 2006, a longitudinal study (LS) of eight enzyme… (More)
  • figure 1
  • figure 2
  • table 1
  • figure 4
  • figure 5
Is this relevant?
Review
2011
Review
2011
N-acetylglutamate synthase (NAGS) deficiency is a rare inborn error of metabolism affecting ammonia detoxification in the urea… (More)
  • figure 1
  • table 1
Is this relevant?
2005
2005
The mitochondrial enzyme N-acetylglutamate synthase (NAGS) produces N-acetylglutamate serving as an allosteric activator of… (More)
Is this relevant?
2003
2003
Diseases that cause hyperammonaemia usually appear during the neonatal period or during the first months of life as severe… (More)
  • figure 1
  • figure 2
Is this relevant?
2003
2003
Molecular diagnosis of N-acetylglutamate synthase deficiency (NAGSD) has become possible now that the corresponding gene has been… (More)
  • figure 1
Is this relevant?