urea has been researched along with ARG1 Deficiency in 33 studies
pseudourea: clinical use; structure
isourea : A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives.
| Excerpt | Relevance | Reference |
|---|---|---|
| "The capacity of arginase-deficient erythrocytes of patients with familial hyperargininemia to produce urea and to catabolize arginine can be increased in vitro by introducing human liver arginase into their erythrocytes." | 7.65 | Use of enzyme-loaded erythrocytes in in-vitro correction of arginase-deficient erythrocytes in familial hyperargininemia. ( Adriaenssens, K; Karcher, D; Lowenthal, A; Terheggen, HG, 1976) |
| " 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) |
| "Arginase deficiency is caused by biallelic mutations in arginase 1 (ARG1), the final step of the urea cycle, and results biochemically in hyperargininemia and the presence of guanidino compounds, while it is clinically notable for developmental delays, spastic diplegia, psychomotor function loss, and (uncommonly) death." | 3.91 | Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency. ( Allegri, G; Burke, KE; Cederbaum, SD; Häberle, J; Lipshutz, GS; Liu, XB; Martini, PGV; Truong, B; Zhu, X, 2019) |
| " The gene coding for this isozyme is mutated in human hyperargininemia." | 3.67 | Human arginase isozymes. ( Cederbaum, SD; Dizikes, GJ; Grody, WW, 1987) |
| "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) |
| "The capacity of arginase-deficient erythrocytes of patients with familial hyperargininemia to produce urea and to catabolize arginine can be increased in vitro by introducing human liver arginase into their erythrocytes." | 3.65 | Use of enzyme-loaded erythrocytes in in-vitro correction of arginase-deficient erythrocytes in familial hyperargininemia. ( Adriaenssens, K; Karcher, D; Lowenthal, A; Terheggen, HG, 1976) |
| "ARG1-deficient patients exhibit hyperargininemia with spastic paraparesis, progressive neurological and intellectual impairment, persistent growth retardation, and infrequent episodes of hyperammonemia, a clinical pattern that differs strikingly from other urea cycle disorders." | 2.52 | Arginase-1 deficiency. ( Baron, G; Funk, CD; Schulze, A; Sin, YY, 2015) |
| "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) |
| "By far the most common disorder was OTC deficiency, accounting for 2/3 of all cases." | 1.30 | Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan. ( Endo, F; Matsuda, I; Uchino, T, 1998) |
| "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) |
| "The infant developed severe mental retardation, athetosis, and spasticity." | 1.25 | Familial hyperargininaemia. ( Colombo, JP; Lavinha, F; Lowenthal, A; Terheggen, HG, 1975) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 17 (51.52) | 18.7374 |
| 1990's | 5 (15.15) | 18.2507 |
| 2000's | 6 (18.18) | 29.6817 |
| 2010's | 5 (15.15) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Truong, B | 1 |
| Allegri, G | 1 |
| Liu, XB | 1 |
| Burke, KE | 1 |
| Zhu, X | 1 |
| Cederbaum, SD | 6 |
| Häberle, J | 2 |
| Martini, PGV | 1 |
| Lipshutz, GS | 1 |
| Asrani, KH | 1 |
| Cheng, L | 1 |
| Cheng, CJ | 1 |
| Subramanian, RR | 1 |
| Sin, YY | 1 |
| Baron, G | 1 |
| Schulze, A | 1 |
| Funk, CD | 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 | 1 |
| Deignan, JL | 2 |
| De Deyn, PP | 1 |
| Fuchshuber, A | 1 |
| Roth, B | 1 |
| Gsell, W | 1 |
| Marescau, B | 1 |
| Zhang, Y | 1 |
| Landau, YE | 1 |
| Miller, DT | 1 |
| Marsden, D | 1 |
| Berry, GT | 1 |
| Kellogg, MD | 1 |
| 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 | 1 |
| Mavri-Damelin, D | 1 |
| Eaton, S | 1 |
| Damelin, LH | 1 |
| Rees, M | 1 |
| Hodgson, HJ | 1 |
| Selden, C | 1 |
| Grody, WW | 3 |
| Batshaw, ML | 1 |
| Walser, M | 1 |
| Kanalas, JJ | 1 |
| Spector, EB | 1 |
| Terheggen, HG | 3 |
| Lowenthal, A | 3 |
| Colombo, JP | 2 |
| Yoshino, M | 1 |
| Kubota, K | 1 |
| Yoshida, I | 1 |
| Murakami, T | 1 |
| Yamashita, F | 1 |
| Chang, RJ | 1 |
| Panagiotis, NM | 1 |
| Matz, D | 1 |
| Matsuda, I | 2 |
| Matsuura, T | 1 |
| Hoshide, R | 1 |
| Uchino, T | 2 |
| Matsubasa, T | 1 |
| Tazawa, Y | 1 |
| Endo, F | 1 |
| Shambaugh, GE | 1 |
| Natelson, S | 1 |
| Sherwin, JE | 1 |
| Raijman, L | 1 |
| Shih, VE | 1 |
| Lavinha, F | 1 |
| Wolfe, DM | 1 |
| Gatfield, PD | 1 |
| Snodgrass, PJ | 1 |
| DeLong, GR | 1 |
| Adriaenssens, K | 1 |
| Karcher, D | 1 |
| Ohtake, A | 1 |
| Mori, M | 1 |
| Chadefaux, B | 1 |
| Rabier, D | 1 |
| Kamoun, P | 1 |
| Saheki, T | 1 |
| Kobayashi, K | 1 |
| Inoue, I | 1 |
| Dizikes, GJ | 1 |
| Brusilow, SW | 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 | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
9 reviews available for urea and ARG1 Deficiency
| Article | Year |
|---|---|
Arginase-1 deficiency.
Topics: Animals; Arginase; Disease Models, Animal; Genetic Association Studies; Humans; Hyperargininemia; Li | 2015 |
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 |
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 |
Hereditary disorders of the urea cycle in man: biochemical and molecular approaches.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Carbamoyl-Phosphate Synth | 1987 |
24 other studies available for urea and ARG1 Deficiency
| Article | Year |
|---|---|
Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency.
Topics: Ammonia; Animals; Arginase; Arginine; Codon; Disease Models, Animal; Glutamine; Hyperammonemia; Hype | 2019 |
Arginase I mRNA therapy - a novel approach to rescue arginase 1 enzyme deficiency.
Topics: Animals; Arginase; Arginine; Biological Therapy; HeLa Cells; Hep G2 Cells; Humans; Hyperargininemia; | 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 |
Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia.
Topics: Adolescent; Adult; Autopsy; Brain; Child; Child, Preschool; Follow-Up Studies; Guanidines; Humans; H | 2010 |
Recurrent unexplained hyperammonemia in an adolescent with arginase deficiency.
Topics: Adolescent; Ammonia; Child; Hospitalization; Humans; Hyperammonemia; Hyperargininemia; Male; Recurre | 2012 |
Genetic approach to prenatal diagnosis in urea cycle defects.
Topics: Acetyltransferases; Amino-Acid N-Acetyltransferase; Argininosuccinate Synthase; Argininosuccinic Aci | 2004 |
Ornithine transcarbamylase and arginase I deficiency are responsible for diminished urea cycle function in the human hepatoblastoma cell line HepG2.
Topics: Arginase; Base Sequence; Carcinoma, Hepatocellular; Cell Line, Tumor; DNA Primers; Gene Expression; | 2007 |
Hyperammonemia.
Topics: Acetyltransferases; Amino Acid Metabolism, Inborn Errors; Amino-Acid N-Acetyltransferase; Ammonia; A | 1984 |
Hollow-fiber reactors containing mammalian arginase: an approach to enzyme replacement therapy.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginase; Drug Stability; Enzymes, Immobilized; Hydro | 1982 |
Clinical and biochemical findings in argininemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Child, Preschool; Consanguinity; Dietar | 1982 |
Argininemia: report of a new case and mechanisms of orotic aciduria and hyperammonemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child, Preschool; Female; Humans; Hyperargi | 1982 |
Menstrual cycle and gonadal steroid effects on symptomatic hyperammonaemia of urea-cycle-based and idiopathic aetiologies.
Topics: Adult; Ammonia; Contraceptives, Oral, Hormonal; Ethinyl Estradiol; Ethinyl Estradiol-Norgestrel Comb | 1994 |
Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan.
Topics: Age of Onset; Amino Acid Metabolism, Inborn Errors; Ammonia; Female; Humans; Hyperargininemia; Infan | 1998 |
Proposed mechanism for urea nitrogen re-utilization: relationship between urea and proposed guanidine cycles.
Topics: Animals; Guanidines; Humans; Hydroxylation; Hyperargininemia; Microsomes, Liver; Models, Biological; | 1979 |
Double deficiencies of urea cycle enzymes in human liver.
Topics: Ammonia; Animals; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthas | 1979 |
Congenital hyperammonemic syndromes.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria | 1976 |
Familial hyperargininaemia.
Topics: Amino Acids; Ammonia; Arginine; Athetosis; Child, Preschool; Chromatography; Cystinuria; Dietary Pro | 1975 |
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 |
Use of enzyme-loaded erythrocytes in in-vitro correction of arginase-deficient erythrocytes in familial hyperargininemia.
Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Erythrocytes; Homozygote; Humans; Hyperarg | 1976 |
[Molecular genetics of urea cycle diseases].
Topics: Acetyltransferases; Amino-Acid N-Acetyltransferase; Ammonia; Animals; Arginase; Argininosuccinate Ly | 1990 |
Human arginase isozymes.
Topics: Animals; Arginase; Arginine; Gene Expression Regulation; Humans; Hyperargininemia; Isoenzymes; Liver | 1987 |
Disorders of the urea cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Acid; Ca | 1985 |