NAGS, N-acetylglutamate synthase, 162417

N. diseases: 58; N. variants: 18
Disease: Hyperammonemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.500 GeneticVariation phenotype BEFREE Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare autosomal recessive inborn errors of metabolism characterized by hyperammonemia due to N-acetylglutamate synthase (NAGS) dysfunction. 31196016 2019
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.500 GeneticVariation phenotype BEFREE We describe a novel sequence variant NM_153006.2:c.-3026C > T in the NAGS enhancer that was found in three patients from two families with NAGSD; two patients had hyperammonemia that resolved upon treatment with NCG, while the third patient increased dietary protein intake after initiation of NCG therapy. 30337552 2018
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.500 GeneticVariation phenotype BEFREE Inborn deficiency of the N-acetylglutamate synthase (NAGS) impairs the urea cycle and causes neurotoxic hyperammonemia. 29055942 2017
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.500 Biomarker phenotype BEFREE The novel NAGS enzyme assay reported herein can be used for the diagnosis of inherited NAGS deficiency and may also be of value in the study of secondary hyperammonemia present in various inborn errors of metabolism as well as drug treatment. 27771289 2016
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.500 GeneticVariation phenotype BEFREE This study aimed to examine the influence of patient characteristics, including polymorphisms in CPS1 4217C>A and NAGS -3064C>A, on the development of hyperammonemia in Japanese pediatric epilepsy patients. 24888247 2014
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.500 Biomarker phenotype BEFREE Since N-acetylglutamate synthase (NAGS) deficiency in humans can be effectively treated with N-carbamyl-l-glutamate (NCG), we sought to develop a mouse model of this disorder that could be rescued by biochemical intervention, reared to adulthood, reproduce, and become a novel animal model for hyperammonemia. 22503289 2012
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.500 GeneticVariation phenotype BEFREE NAGS deficiency in humans leads to hyperammonemia and can be primary, due to mutations in the NAGS gene or secondary due to other mitochondrial aberrations that interfere with the normal function of the same enzyme. 20303810 2010
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.500 AlteredExpression phenotype BEFREE A third child who developed slight hyperammonemia on the third day of life was treated with NCG before enzyme analysis confirmed reduced NAGS activity. 19533169 2010
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.500 AlteredExpression phenotype BEFREE A patient with recurrent episodes of hyperammonaemia (highest ammonia level recorded 229 micromol/L, normal 9-33) leading to altered levels of consciousness was diagnosed with partial N-acetylglutamate synthase (NAGS) deficiency (9% residual activity) at age 5 years and was treated with ammonia-conjugating agents (Ucephan 250 mg/kg per day and later sodium phenylbutyrate 200-250 mg/kg per day) for 15 years. 17703373 2007
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.500 Biomarker phenotype CTD_human A patient with recurrent episodes of hyperammonaemia (highest ammonia level recorded 229 micromol/L, normal 9-33) leading to altered levels of consciousness was diagnosed with partial N-acetylglutamate synthase (NAGS) deficiency (9% residual activity) at age 5 years and was treated with ammonia-conjugating agents (Ucephan 250 mg/kg per day and later sodium phenylbutyrate 200-250 mg/kg per day) for 15 years. 17703373 2007
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.500 Biomarker phenotype BEFREE Deficiency of NAGS causes a block in ureagenesis resulting in hyperammonemia. 15714518 2005
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.500 Biomarker phenotype CTD_human Mutation analysis in patients with N-acetylglutamate synthase deficiency. 12754705 2003
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.500 Biomarker phenotype CTD_human The exons and exon/intron boundaries of the NAGS gene were sequenced from genomic DNA obtained from the parents of an infant from the Faroe Islands who died in the neonatal period and from two Hispanic sisters who presented with acute neonatal hyperammonemia. 12594532 2003
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.500 GeneticVariation phenotype BEFREE The exons and exon/intron boundaries of the NAGS gene were sequenced from genomic DNA obtained from the parents of an infant from the Faroe Islands who died in the neonatal period and from two Hispanic sisters who presented with acute neonatal hyperammonemia. 12594532 2003
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.500 GeneticVariation phenotype BEFREE We have identified the putative human NAGS gene and report the first mutation in this gene in a family with carbamylglutamate responsive hyperammonemia and normal activity of the urea cycle enzymes. 12447942 2002
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.500 Biomarker phenotype HPO