ammonium hydroxide has been researched along with Argininosuccinic Aciduria in 43 studies
azane : Saturated acyclic nitrogen hydrides having the general formula NnHn+2.
Argininosuccinic Aciduria: Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.
| Excerpt | Relevance | Reference |
|---|---|---|
| " This report examines links between biochemical markers (ammonia, glutamine, arginine, citrulline) and primary neuropsychological endpoints in three distal disorders, argininosuccinic acid synthetase deficiency (ASD or citrullinemia type I), argininosuccinic acid lyase deficiency (ASA or ALD), and arginase deficiency (ARGD)." | 3.88 | Biochemical markers and neuropsychological functioning in distal urea cycle disorders. ( Burgard, P; Cederbaum, S; Cuthbertson, D; Holbert, A; McCarter, R; Waisbren, SE, 2018) |
| "We studied 26 children with inborn errors of urea synthesis who survived neonatal hyperammonemic coma." | 3.67 | Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies. ( Batshaw, ML; Brusilow, SW; Mellits, ED; Msall, M; Suss, R, 1984) |
| "Children with inborn errors of urea synthesis accumulate ammonium and other nitrogenous precursors of urea, leading to episodic coma and a high mortality rate." | 3.66 | Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion. ( Batshaw, ML; Blom, W; Brubakk, AM; Brusilow, S; Burton, BK; Cann, HM; Kerr, D; Mamunes, P; Matalon, R; Myerberg, D; Schafer, IA; Waber, L, 1982) |
| "Metabolic observations during early stages of hyperammonemia in two infants with ornithine transcarbamylase deficiency suggest that plasma alpha-ketoglutarate concentration ([alpha-KG]) becomes subnormal before the development of hyperammonemic coma." | 3.66 | Plasma alpha-ketoglutarate in urea cycle enzymopathies and its role as a harbinger of hyperammonemic coma. ( Batshaw, ML; Brusilow, SW; Walser, M, 1980) |
| "Urea cycle disorders and other hyperammonemic syndromes should be considered in the differential diagnosis in newborns with a history of severe vomiting, lethargy, and seizures, and in infants with feeding problems, episodic vomiting, and altered consciousness." | 3.65 | Congenital hyperammonemic syndromes. ( Shih, VE, 1976) |
| "To characterize seizures and evaluate the utility of continuous EEG recording during hyperammonemia due to inborn errors of metabolism." | 1.48 | The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism. ( Gaillard, WD; Gropman, AL; Massaro, A; Prust, M; Tsuchida, TN; Vezina, G; Wiwattanadittakul, N, 2018) |
| "Currently, the diagnosis of ASL deficiency is based on the measurement of urea cycle intermediates and amino acids by automated quantitative ion exchange chromatography in plasma and urine." | 1.31 | Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry. ( Bauer, MF; Bieger, I; Gempel, K; Gerbitz, KD; Hofmann, S; Pontz, BF; Stadler, S, 2001) |
| "The hyperammonemia of Reye's syndrome apparently results from excess waste nitrogen that overwhelms the ability of reduced ornithine transcarbamylase (and occasionally carbamyl phosphate synthetase) to detoxify the ammonia load." | 1.26 | Urea-cycle enzyme deficiencies and an increased nitrogen load producing hyperammonemia in Reye's syndrome. ( DeLong, GR; Snodgrass, PJ, 1976) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 26 (60.47) | 18.7374 |
| 1990's | 7 (16.28) | 18.2507 |
| 2000's | 3 (6.98) | 29.6817 |
| 2010's | 6 (13.95) | 24.3611 |
| 2020's | 1 (2.33) | 2.80 |
| Authors | Studies |
|---|---|
| Spada, M | 1 |
| Porta, F | 1 |
| Righi, D | 1 |
| Gazzera, C | 1 |
| Tandoi, F | 1 |
| Ferrero, I | 1 |
| Fagioli, F | 1 |
| Sanchez, MBH | 1 |
| Calvo, PL | 1 |
| Biamino, E | 1 |
| Bruno, S | 1 |
| Gunetti, M | 1 |
| Contursi, C | 1 |
| Lauritano, C | 1 |
| Conio, A | 1 |
| Amoroso, A | 1 |
| Salizzoni, M | 1 |
| Silengo, L | 1 |
| Camussi, G | 1 |
| Romagnoli, R | 1 |
| Jiang, Y | 1 |
| Almannai, M | 1 |
| Sutton, VR | 1 |
| Sun, Q | 1 |
| Elsea, SH | 1 |
| Waisbren, SE | 1 |
| Cuthbertson, D | 1 |
| Burgard, P | 1 |
| Holbert, A | 1 |
| McCarter, R | 1 |
| Cederbaum, S | 1 |
| Wiwattanadittakul, N | 1 |
| Prust, M | 1 |
| Gaillard, WD | 1 |
| Massaro, A | 1 |
| Vezina, G | 1 |
| Tsuchida, TN | 1 |
| Gropman, AL | 1 |
| Raturi, S | 1 |
| Venkatesh, IH | 1 |
| Nagesh, NK | 1 |
| Venkatagiri, P | 1 |
| Wen, W | 1 |
| Yin, D | 1 |
| Huang, F | 1 |
| Guo, M | 1 |
| Tian, T | 1 |
| Zhu, H | 1 |
| Yang, Y | 1 |
| Baruteau, J | 1 |
| Jameson, E | 1 |
| Morris, AA | 1 |
| Chakrapani, A | 1 |
| Santra, S | 1 |
| Vijay, S | 1 |
| Kocadag, H | 1 |
| Beesley, CE | 1 |
| Grunewald, S | 1 |
| Murphy, E | 1 |
| Cleary, M | 1 |
| Mundy, H | 1 |
| Abulhoul, L | 1 |
| Broomfield, A | 1 |
| Lachmann, R | 1 |
| Rahman, Y | 1 |
| Robinson, PH | 1 |
| MacPherson, L | 1 |
| Foster, K | 1 |
| Chong, WK | 1 |
| Ridout, DA | 1 |
| Bounford, KM | 1 |
| Waddington, SN | 1 |
| Mills, PB | 1 |
| Gissen, P | 1 |
| Davison, JE | 1 |
| Mitchell, S | 1 |
| Ellingson, C | 1 |
| Coyne, T | 1 |
| Hall, L | 1 |
| Neill, M | 1 |
| Christian, N | 1 |
| Higham, C | 1 |
| Dobrowolski, SF | 1 |
| Tuchman, M | 1 |
| Summar, M | 1 |
| Stéphenne, X | 1 |
| Najimi, M | 1 |
| Sibille, C | 1 |
| Nassogne, MC | 1 |
| Smets, F | 1 |
| Sokal, EM | 1 |
| Verma, NP | 1 |
| Hart, ZH | 1 |
| Kooi, KA | 1 |
| Batshaw, ML | 7 |
| Brusilow, SW | 5 |
| Jaeken, J | 1 |
| Devlieger, H | 1 |
| Evens, M | 1 |
| Casaer, P | 1 |
| Eggermont, E | 1 |
| Msall, M | 1 |
| Suss, R | 1 |
| Mellits, ED | 1 |
| Van Gennip, AH | 1 |
| Van Bree-Blom, EJ | 1 |
| Grift, J | 1 |
| DeBree, PK | 1 |
| Wadman, SK | 2 |
| Brusilow, S | 2 |
| Waber, L | 1 |
| Blom, W | 1 |
| Brubakk, AM | 1 |
| Burton, BK | 1 |
| Cann, HM | 1 |
| Kerr, D | 1 |
| Mamunes, P | 1 |
| Matalon, R | 1 |
| Myerberg, D | 1 |
| Schafer, IA | 2 |
| Grisar, T | 1 |
| Sakiyama, T | 1 |
| Suzuki, T | 1 |
| Owada, M | 1 |
| Kitagawa, T | 1 |
| Walser, M | 1 |
| Painter, MJ | 1 |
| Sproul, GT | 1 |
| Thomas, GH | 2 |
| Renner, C | 1 |
| Sewell, AC | 1 |
| Bervoets, K | 1 |
| Förster, H | 1 |
| Böhles, H | 3 |
| Matsubasa, T | 1 |
| Stadler, S | 1 |
| Gempel, K | 1 |
| Bieger, I | 1 |
| Pontz, BF | 1 |
| Gerbitz, KD | 1 |
| Bauer, MF | 1 |
| Hofmann, S | 1 |
| Shambaugh, GE | 1 |
| Raijman, L | 1 |
| Harms, D | 2 |
| Heid, H | 2 |
| Sitzmann, FC | 1 |
| Fekl, W | 2 |
| Schmid, D | 1 |
| Francois, B | 1 |
| Cornu, G | 1 |
| de Meyer, R | 1 |
| Shih, VE | 1 |
| van der Heiden, C | 1 |
| Gerards, LJ | 1 |
| van Biervliet, JP | 1 |
| Desplanque, J | 1 |
| de Bree, PK | 1 |
| van Sprang, FJ | 1 |
| Wolfe, DM | 1 |
| Gatfield, PD | 1 |
| Snodgrass, PJ | 1 |
| DeLong, GR | 1 |
| Smith, AL | 1 |
| Wenner, W | 1 |
| Hamosh, A | 1 |
| Maestri, NE | 1 |
| Hauser, ER | 1 |
| Bartholomew, D | 1 |
| Gallagher, JV | 1 |
| Rifai, N | 1 |
| Conry, J | 1 |
| Soldin, SJ | 1 |
| Ohtake, A | 1 |
| Mori, M | 1 |
| Iafolla, AK | 1 |
| Gale, DS | 1 |
| Roe, CR | 1 |
| Naylor, EW | 1 |
| Parsons, HG | 1 |
| Scott, RB | 1 |
| Pinto, A | 1 |
| Carter, RJ | 1 |
| Snyder, FF | 1 |
| Donn, SM | 1 |
| Thoene, JG | 1 |
| Hudak, ML | 1 |
| Jones, MD | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Longitudinal Study of Urea Cycle Disorders[NCT00237315] | 1,009 participants (Anticipated) | Observational | 2006-02-28 | Recruiting | |||
| The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity[NCT01421888] | 4 participants (Actual) | Observational | 2011-08-08 | Terminated | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
2 reviews available for ammonium hydroxide and Argininosuccinic Aciduria
| Article | Year |
|---|---|
[Argininosuccinate lyase deficiency].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Lyase; Argininosuccinic Acid; Argin | 1998 |
Urea biosynthesis II. Normal and abnormal regulation.
Topics: Adrenal Cortex Hormones; Adrenal Glands; Ammonia; Animals; Argininosuccinate Synthase; Argininosucci | 1978 |
1 trial available for ammonium hydroxide and Argininosuccinic Aciduria
| Article | Year |
|---|---|
Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I Study.
Topics: Age of Onset; Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinic Aciduria; Cell Differe | 2020 |
40 other studies available for ammonium hydroxide and Argininosuccinic Aciduria
| Article | Year |
|---|---|
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Topics: Ammonia; Argininosuccinic Aciduria; Chromatography, Liquid; Female; Glutamine; Glycerol; Humans; Lim | 2017 |
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
Topics: Adolescent; Adult; Ammonia; Arginine; Argininosuccinic Aciduria; Biomarkers; Child; Child, Preschool | 2018 |
The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria | 2018 |
Use of continuous hemodiafiltration for the treatment of a neonate with hyperammonemia secondary to argininosuccinate lyase (ASAL) deficiency.
Topics: Ammonia; Arginine; Argininosuccinate Lyase; Argininosuccinic Aciduria; Breast Feeding; Combined Moda | 2013 |
NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.
Topics: Alternative Splicing; Ammonia; Argininosuccinate Lyase; Argininosuccinic Aciduria; Asian People; Chi | 2016 |
Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
Topics: Adolescent; Adult; Ammonia; Argininosuccinic Acid; Argininosuccinic Aciduria; Child; Child, Preschoo | 2017 |
Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases.
Topics: Ammonia; Arginase; Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Aciduria; C | 2009 |
Sustained engraftment and tissue enzyme activity after liver cell transplantation for argininosuccinate lyase deficiency.
Topics: alpha-Fetoproteins; Ammonia; Argininosuccinate Lyase; Argininosuccinic Acid; Argininosuccinic Acidur | 2006 |
Electroencephalographic findings in urea-cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinic Aciduria; Brain; Electroencephalogra | 1984 |
Hyperammonemia.
Topics: Acetyltransferases; Amino Acid Metabolism, Inborn Errors; Amino-Acid N-Acetyltransferase; Ammonia; A | 1984 |
Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinate Synthase; Argininosuccini | 1984 |
[Neonatal hyperammonemia].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinic Aciduria; Carbamoyl-Phosphate Syntha | 1983 |
Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria | 1984 |
Urinary purines and pyrimidines in patients with hyperammonemia of various origins.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria | 1980 |
Sodium benzoate and arginine: alternative pathway therapy in inborn errors of urea synthesis.
Topics: Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic A | 1983 |
Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Ammonia; Arginine; Argininosuccinate S | 1982 |
Argininosuccinic aciduria in adult: a clinical, electrophysiological and biochemical study.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Arginin | 1982 |
First case of argininosuccinic aciduria in Japan: clinical observations and treatment.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aci | 1982 |
Plasma alpha-ketoglutarate in urea cycle enzymopathies and its role as a harbinger of hyperammonemic coma.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argini | 1980 |
Therapy of urea cycle enzymopathies: three case studies.
Topics: Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Child, Preschool; Citrulline; C | 1981 |
Sodium citrate supplementation in inborn argininosuccinate lyase deficiency: a study in a 5-year-old patient under total parenteral nutrition.
Topics: Alkalosis; Ammonia; Argininosuccinic Acid; Argininosuccinic Aciduria; Child, Preschool; Citrates; Ci | 1995 |
Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry.
Topics: Amino Acid Sequence; Amino Acids; Ammonia; Arginine; Argininosuccinate Lyase; Argininosuccinic Acid; | 2001 |
Double deficiencies of urea cycle enzymes in human liver.
Topics: Ammonia; Animals; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthas | 1979 |
Protein load in argininosuccinic aciduria: thoughts on its biochemical implications.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Argininosuccinic Acid; | 1978 |
Argininosuccinic aciduria: metabolic studies and effects of treatment with keto-analogues of essential amino acids.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Essential; Ammonia; Arginine; | 1978 |
Peritoneal dialysis and exchange transfusion in a neonate with argininosuccinic aciduria.
Topics: Ammonia; Argininosuccinic Acid; Argininosuccinic Aciduria; Exchange Transfusion, Whole Blood; Humans | 1976 |
Congenital hyperammonemic syndromes.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria | 1976 |
Lethal neonatal argininosuccinate lyase deficiency in four children from one sibship.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Argininosuccinic Aciduria; Diseases in T | 1976 |
Leukocyte urea cycle enzymes in hyperammonemia.
Topics: Ammonia; Animals; Arginase; Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Ac | 1975 |
Urea-cycle enzyme deficiencies and an increased nitrogen load producing hyperammonemia in Reye's syndrome.
Topics: Adolescent; Adult; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria; Brain Diseases; C | 1976 |
Editorial: Ammonia disposal in Reye's syndrome.
Topics: Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria; Brain Diseases; Carbamoyl-Phosphate | 1976 |
Argininosuccinase deficiency in a premature infant.
Topics: Ammonia; Argininosuccinic Aciduria; Diagnosis, Differential; Female; Gestational Age; Humans; Infant | 1992 |
Prospective treatment of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Anthropometry; Argininosuccinate Synthase; Argininosu | 1991 |
Role of the clinical laboratory in evaluation of argininosuccinate lyase deficiency.
Topics: Amino Acids; Ammonia; Argininosuccinic Aciduria; Child, Preschool; Chromatography, High Pressure Liq | 1991 |
[Molecular genetics of urea cycle diseases].
Topics: Acetyltransferases; Amino-Acid N-Acetyltransferase; Ammonia; Animals; Arginase; Argininosuccinate Ly | 1990 |
Citrate therapy in argininosuccinate lyase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aci | 1990 |
False positive alanine tolerance test results in heterozygote detection of urea cycle disorders.
Topics: Alanine; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthas | 1989 |
Argininosuccinic aciduria: long-term treatment with arginine.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aci | 1987 |
Prospective prevention of neonatal hyperammonaemia in argininosuccinic acidura by arginine therapy.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aci | 1985 |
Differentiation of transient hyperammonemia of the newborn and urea cycle enzyme defects by clinical presentation.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Apgar Score; Argininosuccinate Synthase; Argininosucc | 1985 |