urea and Argininosuccinate Synthase Deficiency Disease
urea has been researched along with Argininosuccinate Synthase Deficiency Disease 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.
Research Excerpts
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) |
Research
Studies (22)
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
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 |
Clinical Trials (2)
Trial Overview
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] |
Trial Outcomes
Number of Subjects Experienced Adverse Events
(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 |
Number of Subjects Experienced Serious Adverse Events
(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 |
Drug Preference for HPN-100 or Buphenyl® (as Assessed by Global Preference Question)
(NCT00551200)
Timeframe: End of Study
Intervention | participants (Number) | |
---|---|---|
prefer Buphenyl | prefer HPN-100 | |
Buphenyl to HPN-100 | 1 | 9 |
Pharmacokinetics (Plasma and Urine PK Parameters of Study Drugs and Their Metabolites)
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 |
Venous Ammonia Levels at the Peak and Mean TNUAC Time-normalized Area Under the Curve)
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 |
Reviews
3 reviews available for urea and Argininosuccinate Synthase Deficiency Disease
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 |
Trials
1 trial available for urea and Argininosuccinate Synthase Deficiency Disease
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 |
Other Studies
18 other studies available for urea and Argininosuccinate Synthase Deficiency Disease
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 |