urea has been researched along with Argininosuccinic Aciduria in 43 studies
pseudourea: clinical use; structure
isourea : A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives.
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 |
|---|---|---|
| " In contrast, hyperargininemia found in patients with arginase 1 deficiency is associated with pyramidal tract findings and spasticity, without significant hyperammonemia." | 4.82 | Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. ( Brunetti-Pierri, N; Carter, S; Garlick, P; Jahoor, F; Kleppe, S; Lee, B; Marini, J; O'Brien, W; Scaglia, F, 2004) |
| "Argininosuccinic aciduria (ASA) is the second most common genetic disorder affecting the urea cycle." | 3.88 | Adeno-associated viral gene therapy corrects a mouse model of argininosuccinic aciduria. ( Ashley, SN; Buza, EL; Greig, JA; Nordin, JML; Wilson, JM, 2018) |
| " The 1H-NMR metabolic profile from the urine of patients with citrullinaemia and argininosuccinic aciduria consistently demonstrated the presence of the diagnostic metabolites citrulline, N-acetylcitrulline and argininosuccinate, respectively." | 3.68 | Investigation of urea cycle enzyme disorders by 1H-NMR spectroscopy. ( Burns, SP; Iles, RA; Leonard, JV; Woolf, DA, 1992) |
| "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) |
| "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) |
| "Neonatal seizures were not associated with a higher risk of developing epilepsy." | 1.91 | Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study. ( Baruteau, J; Bernhardt, I; Boyd, S; Chakrapani, A; Chan, A; Cleary, M; Crowther, L; Dionisi-Vici, C; Elkhateeb, N; Gissen, P; Grunewald, S; Hartley, T; Lachmann, R; Mills, P; Morris, AAM; Mundy, H; Murphy, E; Olivieri, G; Ridout, D; Santra, S; Sharma, R; Siri, B; Stepien, KM; Sudakhar, S; Uudelepp, ML; Yeo, M, 2023) |
| "One patient with OTC deficiency has had a liver transplant." | 1.35 | Hereditary urea cycle diseases in Finland. ( Keskinen, P; Salo, M; Siitonen, A, 2008) |
| "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 | 23 (53.49) | 18.7374 |
| 1990's | 6 (13.95) | 18.2507 |
| 2000's | 8 (18.60) | 29.6817 |
| 2010's | 3 (6.98) | 24.3611 |
| 2020's | 3 (6.98) | 2.80 |
| Authors | Studies |
|---|---|
| Rezvani, M | 1 |
| Campbell, KM | 1 |
| Prada, CE | 1 |
| Peters, AL | 1 |
| Elkhateeb, N | 1 |
| Olivieri, G | 1 |
| Siri, B | 1 |
| Boyd, S | 1 |
| Stepien, KM | 1 |
| Sharma, R | 1 |
| Morris, AAM | 1 |
| Hartley, T | 1 |
| Crowther, L | 1 |
| Grunewald, S | 1 |
| Cleary, M | 1 |
| Mundy, H | 1 |
| Chakrapani, A | 1 |
| Lachmann, R | 1 |
| Murphy, E | 1 |
| Santra, S | 1 |
| Uudelepp, ML | 1 |
| Yeo, M | 1 |
| Bernhardt, I | 1 |
| Sudakhar, S | 1 |
| Chan, A | 1 |
| Mills, P | 1 |
| Ridout, D | 1 |
| Gissen, P | 1 |
| Dionisi-Vici, C | 1 |
| Baruteau, J | 1 |
| 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 |
| Ashley, SN | 1 |
| Nordin, JML | 1 |
| Buza, EL | 1 |
| Greig, JA | 1 |
| Wilson, JM | 1 |
| Keskinen, P | 1 |
| Siitonen, A | 1 |
| Salo, M | 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 | 2 |
| Beck, NM | 1 |
| Johnston, JP | 1 |
| Lemke, KS | 1 |
| Pogacar, P | 1 |
| Phornphutkul, C | 1 |
| Reid Sutton, V | 1 |
| Pan, Y | 1 |
| Davis, EC | 1 |
| Craigen, WJ | 1 |
| Häberle, J | 2 |
| Koch, HG | 1 |
| Scaglia, F | 1 |
| Brunetti-Pierri, N | 1 |
| Kleppe, S | 1 |
| Marini, J | 1 |
| Carter, S | 1 |
| Garlick, P | 1 |
| Jahoor, F | 1 |
| O'Brien, W | 1 |
| Lee, B | 2 |
| Smith, W | 1 |
| Kishnani, PS | 1 |
| Singh, RH | 1 |
| Rhead, WJ | 1 |
| Sniderman King, L | 1 |
| Smith, M | 1 |
| Roze, E | 1 |
| Azuar, C | 1 |
| Menuel, C | 1 |
| Guillevin, R | 1 |
| Deignan, JL | 1 |
| Cederbaum, SD | 1 |
| Grody, WW | 1 |
| Batshaw, ML | 5 |
| 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 |
| Walser, M | 1 |
| Naylor, EW | 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 | 3 |
| Talbot, HW | 1 |
| Sumlin, AB | 1 |
| Guthrie, R | 1 |
| Painter, MJ | 1 |
| Sproul, GT | 1 |
| Thomas, GH | 1 |
| Matsuda, I | 1 |
| Matsuura, T | 1 |
| Hoshide, R | 1 |
| Uchino, T | 1 |
| Matsubasa, T | 1 |
| Tazawa, Y | 1 |
| Chabchoub, A | 1 |
| M'kadmi, T | 1 |
| Marrakchi, Z | 1 |
| Khiari, D | 1 |
| Kaabachi, N | 1 |
| Ayachi, R | 1 |
| Mebazzaa, R | 1 |
| Khrouf, N | 1 |
| Valle, DL | 1 |
| Batshaw, M | 1 |
| Glick, NR | 1 |
| Snodgrass, PJ | 2 |
| Shambaugh, GE | 1 |
| Raijman, L | 1 |
| Böhles, H | 1 |
| Harms, D | 1 |
| Heid, H | 1 |
| Sitzmann, FC | 1 |
| Fekl, W | 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 |
| Wadman, SK | 1 |
| Wolfe, DM | 1 |
| Gatfield, PD | 1 |
| DeLong, GR | 1 |
| Oberholzer, VG | 1 |
| Palmer, T | 1 |
| Burns, SP | 1 |
| Woolf, DA | 1 |
| Leonard, JV | 1 |
| Iles, RA | 1 |
| Maestri, NE | 1 |
| Hauser, ER | 1 |
| Bartholomew, D | 1 |
| Ohtake, A | 1 |
| Mori, M | 1 |
| Chadefaux, B | 1 |
| Rabier, D | 1 |
| Kamoun, P | 1 |
| Kobayashi, K | 1 |
| Itakura, Y | 1 |
| Saheki, T | 1 |
| Nakano, K | 1 |
| Sase, M | 1 |
| Oyanagi, K | 1 |
| Okamoto, R | 1 |
| Mino, M | 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] | |||||||
8 reviews available for urea and Argininosuccinic Aciduria
| Article | Year |
|---|---|
Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism.
Topics: Animals; Arginine; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthase I Deficiency Disease; Enz | 2004 |
Urea cycle disorders: clinical presentation outside the newborn period.
Topics: Age of Onset; Amino Acid Metabolism, Inborn Errors; Argininosuccinic Aciduria; Child, Preschool; Fem | 2005 |
Contrasting features of urea cycle disorders in human patients and knockout mouse models.
Topics: Amino-Acid N-Acetyltransferase; Animals; Arginase; Argininosuccinate Lyase; Argininosuccinate Syntha | 2008 |
Urea cycle enzymopathies.
Topics: Acetyltransferases; Adult; Amino Acid Metabolism, Inborn Errors; Amino-Acid N-Acetyltransferase; Arg | 1982 |
[Molecular basis of urea cycle disorders].
Topics: Alleles; Arginase; Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Aciduria; C | 1993 |
[Urea cycle disorders].
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamo | 1995 |
Urea biosynthesis II. Normal and abnormal regulation.
Topics: Adrenal Cortex Hormones; Adrenal Glands; Ammonia; Animals; Argininosuccinate Synthase; Argininosucci | 1978 |
[Prenatal diagnosis of enzymopathies of the urea cycle].
Topics: Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthase (Ammonia); Femal | 1988 |
1 trial available for urea 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 |
34 other studies available for urea and Argininosuccinic Aciduria
| Article | Year |
|---|---|
Early allograft dysfunction in a pediatric liver allograft with an occult pathogenic mutation in the urea cycle.
Topics: Allografts; Argininosuccinic Aciduria; Child; Humans; Liver; Mutation; Urea | 2023 |
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
Topics: Arginine; Argininosuccinic Aciduria; Epilepsy; Humans; Nitric Oxide; Retrospective Studies; Seizures | 2023 |
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 |
Adeno-associated viral gene therapy corrects a mouse model of argininosuccinic aciduria.
Topics: Animals; Argininosuccinate Lyase; Argininosuccinic Aciduria; Dependovirus; Disease Models, Animal; G | 2018 |
Hereditary urea cycle diseases in Finland.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Argininosuccinic Aciduria; Carbamoyl-Phosph | 2008 |
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 |
Rhode Island metabolic newborn screening: the effect of early identification. A case report of argininosuccinic aciduria (ASA).
Topics: Argininosuccinate Lyase; Argininosuccinic Aciduria; Humans; Infant, Newborn; Intubation, Gastrointes | 2011 |
A mouse model of argininosuccinic aciduria: biochemical characterization.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginase; Arginine; Argininosuccinate Lyase; Arginino | 2003 |
Genetic approach to prenatal diagnosis in urea cycle defects.
Topics: Acetyltransferases; Amino-Acid N-Acetyltransferase; Argininosuccinate Synthase; Argininosuccinic Aci | 2004 |
Usefulness of magnetic resonance spectroscopy in urea cycle disorders.
Topics: Adult; Argininosuccinic Aciduria; Brain Diseases, Metabolic; Creatine; Female; Humans; Magnetic Reso | 2007 |
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 |
Newborn screening for urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinic Aciduria; Bacillus subtilis; Biological Assay | 1982 |
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 |
A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Aciduria; Blood Specimen Collection | 1982 |
Therapy of urea cycle enzymopathies: three case studies.
Topics: Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Child, Preschool; Citrulline; C | 1981 |
[Argininosuccinic aciduria. Apropos of the 1st Tunisian case in a newborn].
Topics: Age Factors; Argininosuccinic Acid; Argininosuccinic Aciduria; Humans; Infant, Newborn; Male; Tunisi | 1995 |
New pathways of nitrogen excretion in inborn errors of urea synthesis.
Topics: Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Citrulline; Dietary Proteins; Hippu | 1979 |
Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity.
Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Argininosuccinate Lyase; Argininosuccinate | 1976 |
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 |
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 |
Increased excretion of N-carbamoyl compounds in patients with urea cycle defects.
Topics: Alanine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Aspartic Acid; Carbamates; Child; Ch | 1976 |
Investigation of urea cycle enzyme disorders by 1H-NMR spectroscopy.
Topics: Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduri | 1992 |
Prospective treatment of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Anthropometry; Argininosuccinate Synthase; Argininosu | 1991 |
[Molecular genetics of urea cycle diseases].
Topics: Acetyltransferases; Amino-Acid N-Acetyltransferase; Ammonia; Animals; Arginase; Argininosuccinate Ly | 1990 |
Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Br | 1986 |
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 |