ammonium hydroxide has been researched along with Carbamoyl-Phosphate Synthase I Deficiency Disease in 13 studies
azane : Saturated acyclic nitrogen hydrides having the general formula NnHn+2.
Carbamoyl-Phosphate Synthase I Deficiency Disease: A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)
| Excerpt | Relevance | Reference |
|---|---|---|
| "We report the results of a 25-year, open-label, uncontrolled study of sodium phenylacetate and sodium benzoate therapy (Ammonul, Ucyclyd Pharma) in 299 patients with urea-cycle disorders in whom there were 1181 episodes of acute hyperammonemia." | 5.12 | Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. ( Berry, GT; Berry, SA; Brusilow, SW; Enns, GM; Hamosh, A; Rhead, WJ, 2007) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 4 (30.77) | 29.6817 |
| 2010's | 6 (46.15) | 24.3611 |
| 2020's | 3 (23.08) | 2.80 |
| Authors | Studies |
|---|---|
| Zhang, L | 1 |
| Zou, Y | 1 |
| Lu, Y | 1 |
| Li, Z | 1 |
| Gao, F | 1 |
| Nitzahn, M | 4 |
| Allegri, G | 1 |
| Khoja, S | 3 |
| Truong, B | 2 |
| Makris, G | 1 |
| Häberle, J | 2 |
| Lipshutz, GS | 4 |
| Hermann, K | 1 |
| Borzone, R | 1 |
| Willis, B | 1 |
| Rudd, M | 1 |
| Palmer, DJ | 2 |
| Ng, P | 2 |
| Brunetti-Pierri, N | 2 |
| Soria, LR | 1 |
| De Angelis, A | 1 |
| Attanasio, S | 1 |
| Annunziata, P | 1 |
| Ah Mew, N | 1 |
| McCarter, R | 1 |
| Daikhin, Y | 1 |
| Lichter-Konecki, U | 1 |
| Nissim, I | 1 |
| Yudkoff, M | 1 |
| Tuchman, M | 1 |
| Díez-Fernández, C | 2 |
| Gallego, J | 1 |
| Cervera, J | 2 |
| Rubio, V | 2 |
| Ali, EZ | 1 |
| Khalid, MK | 1 |
| Yunus, ZM | 1 |
| Yakob, Y | 1 |
| Chin, CB | 1 |
| Abd Latif, K | 1 |
| Hock, NL | 1 |
| de Cima, S | 1 |
| Polo, LM | 1 |
| Martínez, AI | 1 |
| Fita, I | 1 |
| McBride, KL | 1 |
| Miller, G | 1 |
| Carter, S | 1 |
| Karpen, S | 1 |
| Goss, J | 1 |
| Lee, B | 1 |
| Enns, GM | 1 |
| Berry, SA | 1 |
| Berry, GT | 1 |
| Rhead, WJ | 1 |
| Brusilow, SW | 1 |
| Hamosh, A | 1 |
| Kosho, T | 1 |
| Nakamura, T | 1 |
| Kaneko, T | 1 |
| Tamura, M | 1 |
| Chan, WK | 1 |
| But, WM | 1 |
| Law, CW | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| A Phase 2, Open-Label, Switch-Over, Dose-Escalation Study of the Safety and Tolerability of HPN-100 Compared to Buphenyl® (Sodium Phenylbutyrate) in Patients With Urea Cycle Disorders[NCT00551200] | Phase 2 | 14 participants (Actual) | Interventional | 2007-10-31 | Completed | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
(NCT00551200)
Timeframe: during the period on 100% Buphenyl (up to 4 weeks) or HPN-100 (up to 10 weeks)
| Intervention | participants (Number) |
|---|---|
| Buphenyl | 7 |
| HPN-100 | 5 |
(NCT00551200)
Timeframe: during the period subjects on 100% Buphenyl (up to 4 weeks) or HPN-100 (up to 10 weeks)
| Intervention | participants (Number) |
|---|---|
| Buphenyl | 1 |
| HPN-100 | 0 |
(NCT00551200)
Timeframe: End of Study
| Intervention | participants (Number) | |
|---|---|---|
| prefer Buphenyl | prefer HPN-100 | |
| Buphenyl to HPN-100 | 1 | 9 |
measured AUC0-24 (Area under the curve from time 0 (pre-dose) to 24 hours) for each metabolite in plasma. Data were collected at 30 minutes and 1, 2, 4, 5, 6, 8, 10, 12, and 24 hours post-first dose. (NCT00551200)
Timeframe: At steady state (1 week) on each medication (Buphenyl® alone, HPN-100 alone)
| Intervention | μg*h/mL (Mean) | ||
|---|---|---|---|
| AUC0-24 PBA (phenylbutyrate) in plasma | AUC0-24 PAA (phenylacetate) in plasma | AUC0-24 PAGN (phenylacetylglutamine) in plasma | |
| HPN-100 Steady State | 540 | 575 | 1098 |
| NaPBA Steady State | 740 | 596 | 1133 |
Data were collected at pre-first dose and at 30 minutes and 1, 2, 4, 5, 6, 8, 10, 12, and 24 hours post first dose. (NCT00551200)
Timeframe: At steady state (1 week) on each medication (Buphenyl® alone, HPN-100 alone), and at steady state (1 week) after each dose escalation
| Intervention | μmol/L (Mean) | |
|---|---|---|
| in peak | in TNAUC (time-normalized area under the curve) | |
| HPN-100 Steady State | 56.3 | 26.5 |
| NaPBA Steady State | 79.1 | 38.4 |
2 reviews available for ammonium hydroxide and Carbamoyl-Phosphate Synthase I Deficiency Disease
| Article | Year |
|---|---|
Unraveling the therapeutic potential of carbamoyl phosphate synthetase 1 (CPS1) in human diseases.
Topics: Ammonia; Animals; Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency | 2023 |
CPS1: Looking at an ancient enzyme in a modern light.
Topics: Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency Disease; | 2020 |
2 trials available for ammonium hydroxide and Carbamoyl-Phosphate Synthase I Deficiency Disease
| Article | Year |
|---|---|
Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate.
Topics: Adolescent; Adult; Ammonia; Carbamoyl-Phosphate Synthase I Deficiency Disease; Child; Child, Prescho | 2014 |
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders.
Topics: Adolescent; Adult; Age Factors; Age of Onset; Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamo | 2007 |
9 other studies available for ammonium hydroxide and Carbamoyl-Phosphate Synthase I Deficiency Disease
| Article | Year |
|---|---|
Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency.
Topics: Ammonia; Animals; Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency | 2020 |
Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy.
Topics: Ammonia; Animals; Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency | 2018 |
Hepatic glutamine synthetase augmentation enhances ammonia detoxification.
Topics: Ammonia; Animals; Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency | 2019 |
The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle.
Topics: Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency Disease; | 2015 |
Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.
Topics: Ammonia; Asian People; Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Defici | 2016 |
Structure of human carbamoyl phosphate synthetase: deciphering the on/off switch of human ureagenesis.
Topics: Amino Acid Motifs; Ammonia; Animals; Baculoviridae; Carbamoyl-Phosphate Synthase (Ammonia); Carbamoy | 2015 |
Developmental outcomes with early orthotopic liver transplantation for infants with neonatal-onset urea cycle defects and a female patient with late-onset ornithine transcarbamylase deficiency.
Topics: Ammonia; Carbamoyl-Phosphate Synthase I Deficiency Disease; Child Development; Child, Preschool; Com | 2004 |
A case of neonatal-onset carbamoyl-phosphate synthase I deficiency treated by continuous haemodiafiltration.
Topics: Ammonia; Biopsy; Carbamoyl-Phosphate Synthase I Deficiency Disease; Coma; Hemodiafiltration; Humans; | 2000 |
Ammonia detoxification by continuous venovenous haemofiltration in an infant with urea cycle defect.
Topics: Ammonia; Carbamoyl-Phosphate Synthase I Deficiency Disease; Hemofiltration; Humans; Hyperammonemia; | 2002 |