ammonium hydroxide has been researched along with ARG1 Deficiency in 34 studies
azane : Saturated acyclic nitrogen hydrides having the general formula NnHn+2.
| Excerpt | Relevance | Reference |
|---|---|---|
| " We diagnosed her with ARG1 deficiency, possibly with elevated levels of blood ammonia and plasma arginine." | 4.12 | Two Japanese siblings with arginase-1 deficiency identified using a novel frameshift mutation of ( Fukuhara, S; Nakajima, H, 2022) |
| "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) |
| " 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) |
| "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) |
| "Hyperammonemia is less severe in arginase 1 deficiency compared with other urea cycle defects." | 1.42 | Minimal ureagenesis is necessary for survival in the murine model of hyperargininemia treated by AAV-based gene therapy. ( Cantero, G; Cantero-Nieto, G; Cederbaum, SD; Chan, E; Hu, C; Lipshutz, GS; Park, H; Tai, DS; Yudkoff, M, 2015) |
| "Arginase deficiency is characterized by hyperargininemia and infrequent episodes of hyperammonemia." | 1.38 | Long-term survival of the juvenile lethal arginase-deficient mouse with AAV gene therapy. ( Bhargava, R; Cederbaum, SD; Grody, WW; Hu, C; Lee, EK; Lipshutz, GS; Rozengurt, N; Stout, D, 2012) |
| "He developed hyperammonaemic coma (ammonia >400 μmol/L; normal <90 μmol/L) on postnatal day 35." | 1.35 | Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency. ( Eichinger-Öttl, U; Ertl, C; Haberlandt, E; Häberle, J; Heinz-Erian, P; Karall, D; Rostásy, K; Scholl-Bürgi, S; Sigl, SB, 2008) |
| "We describe a rare and lethal case of arginase deficiency in a 2-day-old female infant with encephalopathy and cerebral edema." | 1.32 | Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. ( Cederbaum, SD; Cox, GF; Degirolami, U; Kern, RM; Levy, HL; Ligon, KL; Marsden, D; Picker, JD; Puga, AC; Shih, VE, 2003) |
| "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) |
| "A 5 9/12-year-old Mexican female with argininemia presented at 4 years of age with severe growth retardation, microcephaly, mental retardation, loss of ability to walk, spasticity and epileptiform electroencephalogram." | 1.26 | Arginase deficiency in multiple tissues in argininemia. ( Beaudet, AL; Michels, VV, 1978) |
| "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 (50.00) | 18.7374 |
| 1990's | 6 (17.65) | 18.2507 |
| 2000's | 4 (11.76) | 29.6817 |
| 2010's | 6 (17.65) | 24.3611 |
| 2020's | 1 (2.94) | 2.80 |
| Authors | Studies |
|---|---|
| Nakajima, H | 1 |
| Fukuhara, S | 1 |
| Truong, B | 1 |
| Allegri, G | 1 |
| Liu, XB | 2 |
| Burke, KE | 1 |
| Zhu, X | 1 |
| Cederbaum, SD | 9 |
| Häberle, J | 2 |
| Martini, PGV | 1 |
| Lipshutz, GS | 5 |
| Waisbren, SE | 1 |
| Cuthbertson, D | 1 |
| Burgard, P | 1 |
| Holbert, A | 1 |
| McCarter, R | 1 |
| Cederbaum, S | 1 |
| Hu, C | 2 |
| Tai, DS | 1 |
| Park, H | 1 |
| Cantero, G | 2 |
| Cantero-Nieto, G | 1 |
| Chan, E | 1 |
| Yudkoff, M | 1 |
| Mervis, RF | 1 |
| Lazaro, MT | 1 |
| Golshani, P | 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 |
| Scholl-Bürgi, S | 1 |
| Sigl, SB | 1 |
| Haberlandt, E | 1 |
| Rostásy, K | 1 |
| Ertl, C | 1 |
| Eichinger-Öttl, U | 1 |
| Heinz-Erian, P | 1 |
| Karall, D | 1 |
| Gau, CL | 1 |
| Rosenblatt, RA | 1 |
| Cerullo, V | 1 |
| Lay, FD | 1 |
| Dow, AC | 1 |
| Livesay, J | 1 |
| Brunetti-Pierri, N | 1 |
| Lee, B | 1 |
| Grody, WW | 3 |
| Lee, EK | 1 |
| Bhargava, R | 1 |
| Rozengurt, N | 1 |
| Stout, D | 1 |
| Zhang, Y | 1 |
| Landau, YE | 1 |
| Miller, DT | 1 |
| Marsden, D | 2 |
| Berry, GT | 1 |
| Kellogg, MD | 1 |
| Picker, JD | 1 |
| Puga, AC | 1 |
| Levy, HL | 1 |
| Shih, VE | 2 |
| Degirolami, U | 1 |
| Ligon, KL | 1 |
| Kern, RM | 1 |
| Cox, GF | 1 |
| Qureshi, IA | 1 |
| Letarte, J | 1 |
| Ouellet, R | 1 |
| Larochelle, J | 1 |
| Lemieux, B | 1 |
| Endres, W | 1 |
| Schaller, R | 1 |
| Shin, YS | 1 |
| Batshaw, ML | 1 |
| Naylor, EW | 1 |
| Yoshino, M | 1 |
| Kubota, K | 1 |
| Yoshida, I | 1 |
| Murakami, T | 1 |
| Yamashita, F | 1 |
| Sewell, AC | 1 |
| Böhles, HJ | 1 |
| Herwig, J | 1 |
| Demirkol, M | 1 |
| Chang, RJ | 1 |
| Panagiotis, NM | 1 |
| Matz, D | 1 |
| Patel, JS | 1 |
| van't Hoff, WV | 1 |
| Leonard, JV | 1 |
| Uchino, T | 1 |
| Endo, F | 1 |
| Matsuda, I | 1 |
| Shambaugh, GE | 1 |
| Raijman, L | 1 |
| Michels, VV | 1 |
| Beaudet, AL | 1 |
| Sogawa, H | 1 |
| Oyanagi, K | 1 |
| Nakao, T | 1 |
| Terheggen, HG | 1 |
| Lowenthal, A | 1 |
| Lavinha, F | 1 |
| Colombo, JP | 1 |
| Wolfe, DM | 1 |
| Gatfield, PD | 1 |
| Snodgrass, PJ | 1 |
| DeLong, GR | 1 |
| Smith, AL | 1 |
| Shimizu, H | 1 |
| Ohtake, A | 1 |
| Mori, M | 1 |
| Saheki, T | 1 |
| Kobayashi, K | 1 |
| Inoue, I | 1 |
| Brusilow, SW | 1 |
| Bernar, J | 1 |
| Hanson, RA | 1 |
| Kern, R | 1 |
| Phoenix, B | 1 |
| Shaw, KN | 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] | |||||||
2 reviews available for ammonium hydroxide and ARG1 Deficiency
| Article | Year |
|---|---|
Urea biosynthesis II. Normal and abnormal regulation.
Topics: Adrenal Cortex Hormones; Adrenal Glands; Ammonia; Animals; Argininosuccinate Synthase; Argininosucci | 1978 |
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 |
32 other studies available for ammonium hydroxide and ARG1 Deficiency
| Article | Year |
|---|---|
Two Japanese siblings with arginase-1 deficiency identified using a novel frameshift mutation of
Topics: Adolescent; Ammonia; Arginase; Arginine; Child; Female; Frameshift Mutation; Humans; Hyperargininemi | 2022 |
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 |
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
Topics: Adolescent; Adult; Ammonia; Arginine; Argininosuccinic Aciduria; Biomarkers; Child; Child, Preschool | 2018 |
Minimal ureagenesis is necessary for survival in the murine model of hyperargininemia treated by AAV-based gene therapy.
Topics: Ammonia; Animals; Arginase; Dependovirus; Disease Models, Animal; Genetic Therapy; Hyperammonemia; H | 2015 |
Rescue of the Functional Alterations of Motor Cortical Circuits in Arginase Deficiency by Neonatal Gene Therapy.
Topics: Action Potentials; Ammonia; Animals; Animals, Newborn; Arginase; Disease Models, Animal; Genetic The | 2016 |
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 |
Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency.
Topics: Adult; Amino Acids; Ammonia; Arginine; Biomarkers; Chromatography, Ion Exchange; Coma; Glutamine; Hu | 2008 |
Short-term correction of arginase deficiency in a neonatal murine model with a helper-dependent adenoviral vector.
Topics: Adenoviridae; Amino Acids; Ammonia; Animals; Animals, Newborn; Arginase; Genetic Therapy; Genetic Ve | 2009 |
Long-term survival of the juvenile lethal arginase-deficient mouse with AAV gene therapy.
Topics: Amino Acids; Ammonia; Animals; Arginase; Blotting, Western; Dependovirus; Female; Fertility; Gene Ex | 2012 |
Recurrent unexplained hyperammonemia in an adolescent with arginase deficiency.
Topics: Adolescent; Ammonia; Child; Hospitalization; Humans; Hyperammonemia; Hyperargininemia; Male; Recurre | 2012 |
Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.
Topics: Amino Acids, Basic; Ammonia; Arginase; Arginine; Brain Edema; Female; Glutamine; Humans; Hyperargini | 2003 |
A new French-Canadian family affected by hyperargininaemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child, Preschool; Erythrocytes; Fema | 1983 |
Diagnosis and treatment of argininaemia. Characteristics of arginase in human erythrocytes and tissues.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Dietary Proteins; Erythrocytes; Humans; Hyp | 1984 |
Hyperammonemia.
Topics: Acetyltransferases; Amino Acid Metabolism, Inborn Errors; Amino-Acid N-Acetyltransferase; Ammonia; A | 1984 |
Urinary pyrimidine excretion in arginase deficiency.
Topics: Adolescent; Ammonia; Arginine; Child; Child, Preschool; Chromatography, High Pressure Liquid; Humans | 1981 |
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 |
Neurological deterioration in patients with urea cycle disorders under valproate therapy--a cause for concern.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Epilepsy; Female; Humans | 1995 |
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 |
Arginase deficiency presenting with convulsions.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Epilepsy, Tonic-Clonic; Humans | 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 |
Double deficiencies of urea cycle enzymes in human liver.
Topics: Ammonia; Animals; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthas | 1979 |
Arginase deficiency in multiple tissues in argininemia.
Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginase; Argin | 1978 |
Periodic hyperammonemia, hyperlysinemia, and homocitrullinuria associated with decreased argininosuccinate synthetase and arginase activities.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginase; Arginine; Argininosuccinate Syn | 1977 |
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 |
Editorial: Ammonia disposal in Reye's syndrome.
Topics: Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria; Brain Diseases; Carbamoyl-Phosphate | 1976 |
[The dibasic amino acid metabolic disorders].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Blood Transfusion; Citrulline; Humans; Hype | 1992 |
[Molecular genetics of urea cycle diseases].
Topics: Acetyltransferases; Amino-Acid N-Acetyltransferase; Ammonia; Animals; Arginase; Argininosuccinate Ly | 1990 |
Disorders of the urea cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Acid; Ca | 1985 |
Arginase deficiency in a 12-year-old boy with mild impairment of intellectual function.
Topics: Ammonia; Arginine; Child; Dietary Proteins; Erythrocytes; Food Preferences; Humans; Hyperargininemia | 1986 |