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Disease on EC 2.3.1.1 - amino-acid N-acetyltransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
amino-acid n-acetyltransferase deficiency
A 6-year-old boy with hyperammonaemia: partial N-acetylglutamate synthase deficiency or portosystemic encephalopathy?
A commentary on short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.
A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate.
A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency.
Carglumic acid for the treatment of N-acetylglutamate synthase deficiency and acute hyperammonemia.
Carglumic acid: a second look. Confirmed progress in a rare urea cycle disorder.
Carglumic acid: new preparation. An advance in rare urea cycle disorders.
Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay.
ECMO as a Platform for Rapid Ammonia Removal in a Neonate with Multienzyme Urea Cycle Disorder.
Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency.
Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase.
Genetic approach to prenatal diagnosis in urea cycle defects.
Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency.
Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles.
Late-onset form of partial N-acetylglutamate synthetase deficiency.
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.
Liver pathology in a new congenital disorder of urea synthesis: N-acetylglutamate synthetase deficiency.
Low dose of carglumic acid for treatment of hyperammonemia due to N-acetylglutamate synthase deficiency.
Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy.
Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis.
Mutation analysis in patients with N-acetylglutamate synthase deficiency.
N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy.
N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.
N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.
N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.
N-Acetylglutamate synthetase deficiency responding to carbamylglutamate.
N-acetylglutamate synthetase deficiency, a second patient.
N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxication.
N-acetylglutamate synthetase deficiency: clinical and laboratory observations.
N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication.
N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamate.
N-carbamoylglutamate-responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effects.
Neonatal hyperammonemia: the N-carbamoyl-L-glutamic acid test.
Non-coding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.
Normal N-acetylglutamate concentration measured in liver from a new patient with N-acetylglutamate synthetase deficiency: physiologic and biochemical implications.
Partial N-acetylglutamate synthetase deficiency in a 13-year-old girl: diagnosis and response to treatment with N-carbamylglutamate.
Partial N-acetylglutamate synthetase deficiency: a new case with uncontrollable movement disorders.
Polar body-based preimplantation genetic diagnosis for N-acetylglutamate synthase deficiency.
Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature.
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate.
Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency.
Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.
Successful early management of a female patient with a metabolic stroke due to ornithine transcarbamylase deficiency.
Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.
Transporters involved in renal excretion of N-carbamoylglutamate, an orphan drug to treat inborn n-acetylglutamate synthase deficiency.
Understanding N-acetyl-L-glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.
[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with N-acetylglutamate synthase deficiency].
arginase deficiency
Genetic approach to prenatal diagnosis in urea cycle defects.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
argininosuccinate lyase deficiency
Genetic approach to prenatal diagnosis in urea cycle defects.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
argininosuccinate synthase deficiency
Genetic approach to prenatal diagnosis in urea cycle defects.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Argininosuccinic Aciduria
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Genetic approach to prenatal diagnosis in urea cycle defects.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Brain Diseases
N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy.
carbamoyl-phosphate synthase (ammonia) deficiency
N-carbamoylglutamate-responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effects.
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Understanding N-acetyl-L-glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.
Carbamoyl-Phosphate Synthase I Deficiency Disease
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Citrullinemia
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Genetic approach to prenatal diagnosis in urea cycle defects.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Coma
Carglumic acid: a second look. Confirmed progress in a rare urea cycle disorder.
Confusion
Partial N-acetylglutamate synthetase deficiency in a 13-year-old girl: diagnosis and response to treatment with N-carbamylglutamate.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Carglumic acid: a second look. Confirmed progress in a rare urea cycle disorder.
Liver pathology in a new congenital disorder of urea synthesis: N-acetylglutamate synthetase deficiency.
Hyperargininemia
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Genetic approach to prenatal diagnosis in urea cycle defects.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Infant, Newborn, Diseases
Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.
Maple Syrup Urine Disease
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Metabolism, Inborn Errors
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial.
Movement Disorders
Partial N-acetylglutamate synthetase deficiency: a new case with uncontrollable movement disorders.
ornithine carbamoyltransferase deficiency
Genetic approach to prenatal diagnosis in urea cycle defects.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Ornithine Carbamoyltransferase Deficiency Disease
Genetic approach to prenatal diagnosis in urea cycle defects.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Phenylketonurias
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Propionic Acidemia
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial.
Starvation
Effect of starvation on the N-acetylglutamate system of rat liver.
Tuberculosis
Functional characterization of a novel ArgA from Mycobacterium tuberculosis.
Structural insights into the substrate binding mechanism of novel ArgA from Mycobacterium tuberculosis.
Tyrosinemias
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Urea Cycle Disorders, Inborn
A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency.
A trial with N-carbamylglutamate may not detect all patients with NAGS deficiency and neonatal onset.
Carglumic acid: new preparation. An advance in rare urea cycle disorders.
Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency.
Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis.
Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene.
N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication.
Non-coding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.
Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.
Successful early management of a female patient with a metabolic stroke due to ornithine transcarbamylase deficiency.