urea has been researched along with Citrullinemia in 22 studies
pseudourea: clinical use; structure
isourea : A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives.
Citrullinemia: A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Citrullinemia type 1 (CTLN1) is a urea cycle disorder (UCD) caused by mutations of the ASS1 gene, which is responsible for production of the enzyme argininosuccinate synthetase (ASS), and classically presented as life-threatening hyperammonemia in newborns." | 7.85 | Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs. ( Kotaka, M; Nishikubo, T; Nomoto, K; Okamoto, S; Okita, K; Osafune, K; Soga, T; Takubo, N; Toyoda, T; Uemoto, S; Yasuchika, K; Yasuda, K; Yoshitoshi-Uebayashi, EY, 2017) |
| "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) |
| "Citrullinemia type I (CTLN1) is a rare autosomal recessive disorder caused by mutations in the gene encoding argininosuccinate synthetase 1 (ASS1) that catalyzes the third step of the urea cycle." | 4.12 | Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice. ( Aldabe, R; Bazo, A; Bénichou, B; Combal, JP; Gonzalez-Aseguinolaza, G; Häberle, J; Lantero, A; Mauleón, I; Neri, L; Poms, M; Ricobaraza, A, 2022) |
| "The underlying pathophysiology of liver dysfunction in urea cycle disorders (UCDs) is still largely elusive." | 3.85 | Metabolically based liver damage pathophysiology in patients with urea cycle disorders - A new hypothesis. ( Garavelli, L; Ivanovski, A; Ivanovski, I; Ivanovski, P; Ješić, M, 2017) |
| "Citrullinemia type 1 (CTLN1) is a urea cycle disorder (UCD) caused by mutations of the ASS1 gene, which is responsible for production of the enzyme argininosuccinate synthetase (ASS), and classically presented as life-threatening hyperammonemia in newborns." | 3.85 | Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs. ( Kotaka, M; Nishikubo, T; Nomoto, K; Okamoto, S; Okita, K; Osafune, K; Soga, T; Takubo, N; Toyoda, T; Uemoto, S; Yasuchika, K; Yasuda, K; Yoshitoshi-Uebayashi, EY, 2017) |
| "Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) shows diverse metabolic abnormalities such as urea cycle dysfunction together with citrullinemia, galactosemia, and suppressed gluconeogenesis." | 3.75 | Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period. ( Hirano, K; Kobayashi, K; Miida, T; Momoi, T; Nagasaka, H; Ohura, T; Okano, Y; Saheki, T; Shigematsu, Y; Takayanagi, M; Tsukahara, H; Yorifuji, J; Yorifuji, T, 2009) |
| "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) |
| "Urea cycle defect is an inborn error of ammonium metabolism caused by a deficient activity of the enzymes involved in urea synthesis." | 1.31 | Localized proton MR spectroscopy in infants with urea cycle defect. ( Choi, CG; Yoo, HW, 2001) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (4.55) | 18.7374 |
| 1990's | 1 (4.55) | 18.2507 |
| 2000's | 12 (54.55) | 29.6817 |
| 2010's | 5 (22.73) | 24.3611 |
| 2020's | 3 (13.64) | 2.80 |
| Authors | Studies |
|---|---|
| Siri, B | 1 |
| Olivieri, G | 1 |
| Angeloni, A | 1 |
| Cairoli, S | 1 |
| Carducci, C | 1 |
| Cotugno, G | 1 |
| Di Michele, S | 1 |
| Giovanniello, T | 1 |
| La Marca, G | 1 |
| Lepri, FR | 1 |
| Novelli, A | 1 |
| Rossi, C | 1 |
| Semeraro, M | 1 |
| Dionisi-Vici, C | 2 |
| Bazo, A | 2 |
| Lantero, A | 2 |
| Mauleón, I | 2 |
| Neri, L | 2 |
| Poms, M | 2 |
| Häberle, J | 3 |
| Ricobaraza, A | 2 |
| Bénichou, B | 2 |
| Combal, JP | 2 |
| Gonzalez-Aseguinolaza, G | 2 |
| Aldabe, R | 2 |
| Yau, WW | 1 |
| Chen, GB | 1 |
| Zhou, J | 1 |
| Francisco, JC | 1 |
| Thimmukonda, NK | 1 |
| Li, S | 1 |
| Singh, BK | 1 |
| Yen, PM | 1 |
| Herrera Sanchez, MB | 1 |
| Previdi, S | 1 |
| Bruno, S | 1 |
| Fonsato, V | 1 |
| Deregibus, MC | 1 |
| Kholia, S | 1 |
| Petrillo, S | 1 |
| Tolosano, E | 1 |
| Critelli, R | 1 |
| Spada, M | 1 |
| Romagnoli, R | 1 |
| Salizzoni, M | 1 |
| Tetta, C | 1 |
| Camussi, G | 1 |
| Ivanovski, I | 1 |
| Ješić, M | 1 |
| Ivanovski, A | 1 |
| Garavelli, L | 1 |
| Ivanovski, P | 1 |
| Saheki, T | 5 |
| Moriyama, M | 4 |
| Kuroda, E | 1 |
| Funahashi, A | 1 |
| Yasuda, I | 1 |
| Setogawa, Y | 1 |
| Gao, Q | 1 |
| Ushikai, M | 2 |
| Furuie, S | 1 |
| Yamamura, KI | 1 |
| Takano, K | 1 |
| Nakamura, Y | 2 |
| Eto, K | 1 |
| Kadowaki, T | 1 |
| Sinasac, DS | 3 |
| Furukawa, T | 1 |
| Horiuchi, M | 4 |
| Tai, YH | 1 |
| Posset, R | 1 |
| Garcia-Cazorla, A | 1 |
| Valayannopoulos, V | 1 |
| Teles, EL | 1 |
| Brassier, A | 1 |
| Burlina, AB | 1 |
| Burgard, P | 1 |
| Cortès-Saladelafont, E | 1 |
| Dobbelaere, D | 1 |
| Couce, ML | 1 |
| Sykut-Cegielska, J | 1 |
| Lund, AM | 1 |
| Chakrapani, A | 1 |
| Schiff, M | 1 |
| Walter, JH | 1 |
| Zeman, J | 1 |
| Vara, R | 1 |
| Kölker, S | 1 |
| Yoshitoshi-Uebayashi, EY | 1 |
| Toyoda, T | 1 |
| Yasuda, K | 1 |
| Kotaka, M | 1 |
| Nomoto, K | 1 |
| Okita, K | 1 |
| Yasuchika, K | 1 |
| Okamoto, S | 1 |
| Takubo, N | 1 |
| Nishikubo, T | 1 |
| Soga, T | 1 |
| Uemoto, S | 1 |
| Osafune, K | 1 |
| Tuchman, M | 1 |
| Lee, B | 3 |
| Lichter-Konecki, U | 1 |
| Summar, ML | 1 |
| Yudkoff, M | 1 |
| Cederbaum, SD | 1 |
| Kerr, DS | 1 |
| Diaz, GA | 1 |
| Seashore, MR | 1 |
| Lee, HS | 1 |
| McCarter, RJ | 1 |
| Krischer, JP | 1 |
| Batshaw, ML | 1 |
| Keskinen, P | 1 |
| Siitonen, A | 1 |
| Salo, M | 1 |
| Nagasaka, H | 1 |
| Okano, Y | 1 |
| Tsukahara, H | 1 |
| Shigematsu, Y | 1 |
| Momoi, T | 1 |
| Yorifuji, J | 1 |
| Miida, T | 1 |
| Ohura, T | 1 |
| Kobayashi, K | 4 |
| Hirano, K | 1 |
| Takayanagi, M | 1 |
| Yorifuji, T | 1 |
| MCMURRAY, WC | 1 |
| MOHYUDDIN, F | 1 |
| RATHBUN, JC | 1 |
| Jalil, MA | 2 |
| Begum, L | 2 |
| Li, MX | 3 |
| Iijima, M | 3 |
| Robinson, BH | 1 |
| Tsui, LC | 2 |
| Lu, YB | 1 |
| Tabata, A | 1 |
| Hsiao, KJ | 1 |
| Yang, Y | 1 |
| Scaglia, F | 1 |
| Carter, S | 1 |
| O'Brien, WE | 1 |
| Mandel, H | 1 |
| Levy, N | 1 |
| Izkovitch, S | 1 |
| Korman, SH | 1 |
| Singh, RH | 1 |
| Rhead, WJ | 2 |
| Smith, W | 1 |
| Sniderman King, L | 1 |
| Summar, M | 1 |
| Kannan, Y | 1 |
| Tanaka, M | 1 |
| Enns, GM | 1 |
| Berry, SA | 1 |
| Berry, GT | 1 |
| Brusilow, SW | 1 |
| Hamosh, A | 1 |
| Saudubray, JM | 1 |
| Touati, G | 1 |
| Delonlay, P | 1 |
| Jouvet, P | 1 |
| Narcy, C | 1 |
| Laurent, J | 1 |
| Rabier, D | 1 |
| Kamoun, P | 1 |
| Jan, D | 1 |
| Revillon, Y | 1 |
| Matsumura, R | 1 |
| Choi, CG | 1 |
| Yoo, HW | 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 | |||
| 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 |
3 reviews available for urea and Citrullinemia
| Article | Year |
|---|---|
Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle.
Topics: Adult; Calcium-Binding Proteins; Citrullinemia; Female; Gene Frequency; Hepatitis; Humans; Infant, N | 2004 |
Nutritional management of urea cycle disorders.
Topics: Acute Disease; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chr | 2005 |
[Disorders of the urea cycle].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Citrullinemia; Human | 2000 |
1 trial available for urea and Citrullinemia
| Article | Year |
|---|---|
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 |
18 other studies available for urea and Citrullinemia
| Article | Year |
|---|---|
The diagnostic challenge of mild citrulline elevation at newborn screening.
Topics: Citrulline; Citrullinemia; Humans; Infant, Newborn; Neonatal Screening; Urea; Urea Cycle Disorders, | 2022 |
Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice.
Topics: Ammonia; Animals; Argininosuccinate Synthase; Citrullinemia; Genetic Therapy; Mice; Nitrogen; Urea | 2022 |
Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice.
Topics: Ammonia; Animals; Argininosuccinate Synthase; Citrullinemia; Genetic Therapy; Mice; Nitrogen; Urea | 2022 |
Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice.
Topics: Ammonia; Animals; Argininosuccinate Synthase; Citrullinemia; Genetic Therapy; Mice; Nitrogen; Urea | 2022 |
Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice.
Topics: Ammonia; Animals; Argininosuccinate Synthase; Citrullinemia; Genetic Therapy; Mice; Nitrogen; Urea | 2022 |
Nicotinamide riboside rescues dysregulated glycolysis and fatty acid β-oxidation in a human hepatic cell model of citrin deficiency.
Topics: Aspartic Acid; Citrullinemia; Fatty Acids; Glycolysis; Hepatocytes; Humans; Hyperammonemia; Malates; | 2023 |
Extracellular vesicles from human liver stem cells restore argininosuccinate synthase deficiency.
Topics: Argininosuccinate Synthase; Citrullinemia; Extracellular Vesicles; Hepatocytes; Humans; Liver; Stem | 2017 |
Metabolically based liver damage pathophysiology in patients with urea cycle disorders - A new hypothesis.
Topics: Ammonia; Central Nervous System; Citrullinemia; Enterobacter; Fatal Outcome; Hepatocytes; Humans; Hy | 2017 |
Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency, based on the mouse model.
Topics: Amino Acids; Ammonia; Ammonium Chloride; Animals; Aspartic Acid; Citrulline; Citrullinemia; Disease | 2019 |
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonium Compounds; Argininosuccinate Synthase; Ch | 2016 |
Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs.
Topics: Animals; Arginine; Argininosuccinate Synthase; Base Sequence; Cell Differentiation; Citric Acid Cycl | 2017 |
Cross-sectional multicenter study of patients with urea cycle disorders in the United States.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child | 2008 |
Hereditary urea cycle diseases in Finland.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Argininosuccinic Aciduria; Carbamoyl-Phosph | 2008 |
Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period.
Topics: Amino Acids; Apolipoproteins; Asian People; Biomarkers; Carbohydrates; Child; Child, Preschool; Citr | 2009 |
CITRULLINURIA.
Topics: Amino Acid Metabolism, Inborn Errors; Citrulline; Citrullinemia; Clinical Enzyme Tests; Humans; Infa | 1964 |
Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.
Topics: Amino Acids; Ammonia; Animals; Argininosuccinate Synthase; Aspartic Acid; Base Sequence; Citrullinem | 2004 |
Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Citrullinemia; | 2004 |
Elevated plasma citrulline and arginine due to consumption of Citrullus vulgaris (watermelon).
Topics: Adult; Arginine; Citrulline; Citrullinemia; Citrullus; Developmental Disabilities; Diet; Female; Hum | 2005 |
Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice.
Topics: Amino Acids; Ammonia; Animals; Anticoagulants; Aspartic Acid; Calcium-Binding Proteins; Citric Acid; | 2006 |
Liver transplantation in urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Carbamoyl-Phosphate Synthase I Deficiency Disease; Child; Chil | 1999 |
Localized proton MR spectroscopy in infants with urea cycle defect.
Topics: Amino Acid Metabolism, Inborn Errors; Citrullinemia; Female; Humans; Infant; Infant, Newborn; Magnet | 2001 |