Compounds > ornithine

ornithine and Hyperammonemia

ornithine has been researched along with Hyperammonemia in 73 studies

Research

Studies (73)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's30 (41.10)29.6817
2010's33 (45.21)24.3611
2020's10 (13.70)2.80

Authors

AuthorsStudies
Becerra, A; Gemperle, C; Gruppi, A; Häberle, J; Larovere, LE; Motrich, RD; Olivero, V; Peano, N; Silvera-Ruiz, SM1
Fukui, K; Ishihara, N; Kakuma, T; Matsunari, H; Nagashima, H; Takahashi, T; Uchikura, A; Watanabe, M; Watanabe, Y; Yamashita, Y; Yoshino, M1
Ding, Y; Koda, Y; Nagasaki, Y; Nishikawa, Y; Shashni, B; Takeda, N; Tanaka, N; Zhang, X1
Ibayashi, Y; Lee, Y; Nagasaki, Y; Ngo, DN; Nishikawa, Y; Vong, LB1
Bertini, E; Di Capua, M; Diodato, D; Dionisi-Vici, C; Longo, D; Martinelli, D; Olivieri, G; Pro, S1
Agolini, E; Boenzi, S; Dionisi-Vici, C; Fiermonte, G; Goffredo, BM; Häberle, J; Martinelli, D; Porcelli, V; Travaglini, L1
Cai, YN; Jiang, MY; Li, XZ; Lin, YT; Liu, L; Mei, HF; Peng, MZ; Shao, YX; Sheng, HY; Su, L; Yin, X1
De Bruyne, P; De Bruyne, R; de Hemptinne, B; Van Biervliet, S; Van Hove, JLK; Van Winckel, M; Vande Velde, S; Verloo, P1
Bémeur, C; Bosoi, CR; Clément, MA; Oliveira, MM; Rose, CF; Tremblay, M1
Arnoux, JB; Besson, G; Bigot, A; Charriere, S; Damaj, L; Douillard, C; Garnotel, R; Kaphan, E; Lavigne, C; Maillot, F; Mesli, S; Mochel, F; Moreau, C; Noel, E; Odent, S; Redonnet-Vernhet, I; Rigalleau, V; Roubertie, A; Servais, A; Servettaz, A; Spodenkiewicz, M; Toquet, S1
Billingham, MJ; Rizk, R1
Fukuyama, T; Hoshino, Y; Kaneko, T; Kodaira, M; Matsuno, A; Sekijima, Y; Takano, K; Yazaki, M1
Bukofzer, S; Clasen, K; Durkalski, V; Fontana, RJ; Ganger, D; Gottfried, M; Hameed, B; Hanje, AJ; Koch, D; Lee, WM; Little, L; Ravis, WR; Sherker, A; Stravitz, RT; Subramanian, RM1
Ono, H; Shigematsu, Y; Tamada, T1
Breuer, M; Carl, M; Hoffmann, GF; Kölker, S; Okun, JG; Zielonka, M1
Enlund, M; Hårdstedt, M; Oscarson, M; Sahlander, F; Silfverberg, T1
Barić, I; Burgard, P; Chapman, KA; Gleich, F; Kölker, S; Lund, AM; Molema, F; Summar, ML; van der Ploeg, AT; Williams, M1
Eto, K; Funahashi, A; Furuie, S; Furukawa, T; Gao, Q; Horiuchi, M; Kadowaki, T; Kuroda, E; Moriyama, M; Nakamura, Y; Saheki, T; Setogawa, Y; Sinasac, DS; Tai, YH; Takano, K; Ushikai, M; Yamamura, KI; Yasuda, I1
Jalan, R; Jover-Cobos, M; Noiret, L; Sharifi, Y1
Busanello, EN; Grings, M; Leipnitz, G; Moura, AP; Tonin, AM; Viegas, CM; Wajner, M; Zanatta, A1
Au, KM; Chan, AY; Lai, CK; Lai, JP; Lam, CW; Lee, HH; Mak, CM; Poon, KH; Siu, TS; Yuen, YP1
Auray-Blais, C; Lavoie, P; Maranda, B1
Fuskevåg, OM; Jalan, R; Kristiansen, RG; Mæhre, H; Revhaug, A; Rose, CF; Ytrebø, LM1
Agarwal, A; Chandani, N; Dhawan, A; Kumar, K; Raj, P1
de Moura Coelho, D; de Oliveira Monteiro, W; Hickmann, FH; Leipnitz, G; Sitta, A; Vargas, CR; Viegas, CM; Wajner, M; Zanatta, Â1
Calvello, R; Marobbio, CM; Palmieri, F; Palmieri, L; Panaro, MA; Pierri, CL; Punzi, G1
Bertini, E; Boenzi, S; Diodato, D; Dionisi-Vici, C; Fiermonte, G; Martinelli, D; Monné, M; Ponzi, E1
Cheillan, D; Dessein, AF; Dobbelaere, D; Fontaine, M; Joncquel-Chevalier Curt, M; Mention-Mulliez, K; Porchet, N; Soto-Ares, G; Vamecq, J; Voicu, PM1
Lemire, EG; Mirhosseini, NZ; Moien-Afshari, F; Voll, CL1
Amaral, AU; Quincozes-Santos, A; Rodrigues, MD; Souza, DG; Wajner, M; Zanatta, Â1
Kristiansen, RG; Rose, CF; Ytrebø, LM1
Kristiansen, RG1
Jamuar, SS; Lim, JS; Qadri, SK; Ting, TW1
Debray, FG; Drouin, R; Dubé, J; Fenyves, D; Laframboise, R; Lambert, M; Lemieux, B; Maranda, B; Mitchell, GA; Soucy, JF1
Eichinger-Öttl, U; Ertl, C; Haberlandt, E; Häberle, J; Heinz-Erian, P; Karall, D; Rostásy, K; Scholl-Bürgi, S; Sigl, SB1
Aldamiz-Echevarría, L; Baumgartner, MR; Besley, G; Chien, YH; de Baulny, HO; Deodato, F; Dionisi-Vici, C; Fiermonte, G; Hernandez, JM; Loguercio, C; Martinez-Hernandez, E; Melone, MA; Nassogne, MC; Palmieri, F; Paradies, E; Parenti, G; Pierri, CL; Rutledge, SL; Santorelli, FM; Scarano, G; Schiff, M; Tessa, A; Vilaseca, MA; Walter, J1
Camacho, JA; Rioseco-Camacho, N1
Larsen, FS; Wendon, J1
Boenzi, S; Capozzi, P; Dionisi-Vici, C; Morini, C; Rizzo, C; Santorelli, FM1
Amaral, AU; Dutra-Filho, CS; Fernandes, CG; Leipnitz, G; Seminotti, B; Viegas, CM; Wajner, M; Zanatta, A1
Antonishyn, N; Irvine, J; Lehotay, DC; Lepage, J; McDonald, R; Rockman-Greenberg, C; Sokoro, AA1
Busanello, EN; de Moura, AP; Ferreira, Gda C; Grings, M; Ritter, L; Schuck, PF; Sitta, A; Tonin, AM; Vargas, CR; Viegas, CM; Wajner, M1
Erez, A; Lee, B; Nagamani, SC1
Hayasaka, S; Kodama, T; Ohira, A1
Davies, NA; Jalan, R; Mookerjee, RP; Stadlbauer, V; Vairappan, B; Wright, G1
Chou, KC; Wang, JF1
Ficicioglu, C; Kim, SZ; Mandell, R; Nyhan, WL; Shih, VE; Song, WJ1
Choi, DE; Lee, KW; Na, KR; Shin, YT1
Bak, LK; Dadsetan, S; Jalan, R; Keiding, S; Ott, P; Schousboe, A; Sørensen, M; Vilstrup, H; Waagepetersen, HS1
Alberici, A; Filosto, M; Padovani, A; Santorelli, FM; Tessa, A1
Dakshayani, KB; Subramanian, P; Velvizhi, S1
David, L; Dionisi-Vici, C; Dolce, V; Fiermonte, G; Palmieri, F; Santorelli, FM; Walker, JE1
Andrade, D; Camacho, JA; Kong, J; Porter, J; Rioseco-Camacho, N1
Abu-Libdeh, B; Gutman, A; Kanazawa, N; Korman, SH; Tsujino, S1
Baumgartner, MR; Dufier, JL; Kamoun, P; Nassogne, MC; Padovani, JP; Rabier, D; Saudubray, JM; Valle, D1
Berger, R; Besley, GT; Cleary, MA; de Koning, TJ; Dorland, L; Duran, M; Mandell, R; Olpin, SE; Poll-The, BT; Shih, VE1
Osada, H; Seki, K1
Andria, G; Carbone, MT; Correra, A; Della Casa, R; Dionisi-Vici, C; Fecarotta, S; Parenti, G; Riva, S; Santorelli, FM; Torre, G; Vajro, P; Zuppaldi, A1
Garlick, PJ; Lee, B; Marini, JC1
Andrade, D; Camacho, JA; Cederbaum, SD; Derbeneva, O; Mardach, R; Qu, Y; Rioseco-Camacho, N; Ruiz-Pesini, E; Zaldivar, F1
Davies, NA; Hodges, SJ; Jalan, R; Wright, G1
Abu-Amero, KK; Al-Dirbashi, OY; Al-Hassnan, ZN; Patay, Z; Rahbeeni, Z; Rashed, MS1
Chan, A; Collison, M; Greenberg, CR; Huynh, HQ; Lehotay, DC; Mhanni, AA; Seifert, B; Sokoro, A1
Blanke, CD; Chan, JS; Harding, CO1
Almashanu, S; Aral, B; Baumgartner, MR; Hu, CA; Kamoun, P; Obie, C; Rabier, D; Saudubray, JM; Steel, G; Valle, D1
Gallagher, AC; Pike, M; Standing, S1
Ohura, T; Sakamoto, O1
Seiler, N1
Bauer, MF; Bieger, I; Gempel, K; Gerbitz, KD; Hofmann, S; Pontz, BF; Stadler, S1
Bertini, E; Boldrini, R; Burlina, AB; Di Capua, M; Dionisi-Vici, C; Donati, A; Fariello, G; Meli, C; Rizzo, C; Salvi, S; Santorelli, FM1
Bertini, E; Dionisi-Vici, C; Salvi, S; Santorelli, FM; Verardo, M1
Kakinuma, H1
Kanazawa, N; Miyamoto, T; Tsujino, S1

Reviews

12 review(s) available for ornithine and Hyperammonemia

ArticleYear
Ornithine phenylacetate revisited.
    Metabolic brain disease, 2013, Volume: 28, Issue:2

    Topics: Animals; Brain; Hepatic Encephalopathy; Humans; Hyperammonemia; Liver Cirrhosis; Liver Diseases; Liver Failure; Ornithine; Rats

2013
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
    Orphanet journal of rare diseases, 2015, Mar-11, Volume: 10

    Topics: Aging; Humans; Hyperammonemia; Mutation; Origin Recognition Complex; Ornithine; Protein Conformation; Urea Cycle Disorders, Inborn

2015
Creatine biosynthesis and transport in health and disease.
    Biochimie, 2015, Volume: 119

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; AMP-Activated Protein Kinases; Animals; Biological Transport, Active; Brain Diseases, Metabolic, Inborn; Creatine; Developmental Disabilities; Energy Metabolism; Guanidinoacetate N-Methyltransferase; Gyrate Atrophy; Humans; Hyperammonemia; Intellectual Disability; Language Development Disorders; Mental Retardation, X-Linked; Methylation; Mitochondrial Membrane Transport Proteins; Movement Disorders; Mutation; Nerve Tissue Proteins; Ornithine; Plasma Membrane Neurotransmitter Transport Proteins; Prenatal Diagnosis; S-Adenosylmethionine; Speech Disorders; Urea Cycle Disorders, Inborn

2015
Glycine and hyperammonemia: potential target for the treatment of hepatic encephalopathy.
    Metabolic brain disease, 2016, Volume: 31, Issue:6

    Topics: Animals; Drug Delivery Systems; Glycine; Hepatic Encephalopathy; Humans; Hyperammonemia; Ornithine; Treatment Outcome

2016
Current state of knowledge of hepatic encephalopathy (part I): newer treatment strategies for hyperammonemia in liver failure.
    Metabolic brain disease, 2016, Volume: 31, Issue:6

    Topics: Ammonia; Animals; Glutamate-Ammonia Ligase; Health Knowledge, Attitudes, Practice; Hepatic Encephalopathy; Humans; Hyperammonemia; Liver Failure; Ornithine; Treatment Outcome

2016
Milder Form of Urea Cycle Defect Revisited: Report and Review of Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria (HHH) Syndrome Diagnosed in a Teenage Girl Presenting with Recurrent Encephalopathy.
    Annals of the Academy of Medicine, Singapore, 2016, Volume: 45, Issue:12

    Topics: Amino Acid Transport Systems, Basic; Brain Diseases; Child; Diet, Protein-Restricted; DNA Mutational Analysis; Female; Humans; Hyperammonemia; Mitochondrial Membrane Transport Proteins; Ornithine; Recurrence; Severity of Illness Index; Urea Cycle Disorders, Inborn

2016
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
    American journal of medical genetics. Part C, Seminars in medical genetics, 2011, Feb-15, Volume: 157C, Issue:1

    Topics: Arginase; Arginine; Argininosuccinate Lyase; Argininosuccinic Acid; Argininosuccinic Aciduria; Carboxy-Lyases; Humans; Hyperammonemia; Infant, Newborn; Liver Diseases; Neonatal Screening; Nitric Oxide Synthase; Ornithine; Urea Cycle Disorders, Inborn

2011
Retinal risks of high-dose ornithine supplements: a review.
    The British journal of nutrition, 2011, Volume: 106, Issue:6

    Topics: Animals; Dietary Supplements; Dose-Response Relationship, Drug; Haplorhini; Heterozygote; Humans; Hyperammonemia; Mice; Models, Biological; Ornithine; Rats; Rats, Sprague-Dawley; Retina; Retinal Degeneration; Retinal Pigment Epithelium; Urea Cycle Disorders, Inborn

2011
[Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome].
    Ryoikibetsu shokogun shirizu, 2001, Issue:33

    Topics: Citrulline; Humans; Hyperammonemia; Ornithine; Syndrome

2001
Ornithine aminotransferase, a potential target for the treatment of hyperammonemias.
    Current drug targets, 2000, Volume: 1, Issue:2

    Topics: Ammonia; Animals; Biogenic Polyamines; Brain; Chorioretinitis; Enzyme Inhibitors; Humans; Hyperammonemia; Kidney; Liver; Mice; Ornithine; Ornithine-Oxo-Acid Transaminase; Thioacetamide; Urea

2000
[Structure-function relationships of mitochondrial transporters].
    Nihon rinsho. Japanese journal of clinical medicine, 2002, Volume: 60 Suppl 4

    Topics: Animals; Citrulline; Humans; Hyperammonemia; Intracellular Membranes; Membrane Transport Proteins; Mitochondria; Mitochondrial ADP, ATP Translocases; Mutation; Ornithine; Phosphate Transport Proteins; Syndrome

2002
[Mitochondrial ornithine transporter deficiency].
    Nihon rinsho. Japanese journal of clinical medicine, 2002, Volume: 60 Suppl 4

    Topics: Amino Acid Transport Systems, Basic; Carrier Proteins; Citrulline; Diagnosis, Differential; Humans; Hyperammonemia; Membrane Transport Proteins; Mitochondria; Mitochondrial Membrane Transport Proteins; Mutation; Ornithine; Prognosis; Proteins; Syndrome

2002

Other Studies

61 other study(ies) available for ornithine and Hyperammonemia

ArticleYear
Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report.
    Frontiers in immunology, 2022, Volume: 13

    Topics: Amino Acid Transport Systems, Basic; Child, Preschool; Female; Humans; Hyperammonemia; Mitochondrial Membrane Transport Proteins; Ornithine; Quality of Life; Urea Cycle Disorders, Inborn

2022
Moving towards a novel therapeutic strategy for hyperammonemia that targets glutamine metabolism.
    Journal of inherited metabolic disease, 2022, Volume: 45, Issue:6

    Topics: Ammonia; Animals; Fibroblasts; Glutamate Dehydrogenase; Glutamine; Hyperammonemia; Mice; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Swine

2022
An orally deliverable ornithine-based self-assembling polymer nanomedicine ameliorates hyperammonemia in acetaminophen-induced acute liver injury.
    Acta biomaterialia, 2023, 09-15, Volume: 168

    Topics: Acetaminophen; Ammonia; Animals; Hyperammonemia; Liver; Mice; Nanomedicine; Ornithine; Polyethylene Glycols; Polymers

2023
Poly(ornithine)-based self-assembling drug for recovery of hyperammonemia and damage in acute liver injury.
    Journal of controlled release : official journal of the Controlled Release Society, 2019, 09-28, Volume: 310

    Topics: Acetaminophen; Ammonia; Animals; Cattle; Cell Survival; Chemical and Drug Induced Liver Injury; Chondroitin Sulfates; Disease Models, Animal; Drug Delivery Systems; Endothelial Cells; Hyperammonemia; Macrophages; Male; Mice; Mice, Inbred C57BL; Mice, Inbred ICR; Nanoparticles; Ornithine; RAW 264.7 Cells

2019
Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia.
    Orphanet journal of rare diseases, 2019, 08-23, Volume: 14, Issue:1

    Topics: Adolescent; Adult; Brain; Child; Female; Humans; Hyperammonemia; Magnetic Resonance Imaging; Male; Middle Aged; Mutation; Neural Conduction; Ornithine; Spastic Paraplegia, Hereditary; Spinal Cord; Urea Cycle Disorders, Inborn; Young Adult

2019
CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
    European journal of human genetics : EJHG, 2020, Volume: 28, Issue:7

    Topics: Genetic Testing; Humans; Hyperammonemia; Mitochondrial Membrane Transport Proteins; Mutation; Ornithine; Phenotype; Sensitivity and Specificity; Urea Cycle Disorders, Inborn

2020
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency.
    Clinical biochemistry, 2020, Volume: 84

    Topics: Adolescent; Adult; Ammonia; Arginine; Child; Child, Preschool; China; Creatine; Female; Humans; Hyperammonemia; Lysine; Male; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Urea; Young Adult

2020
Successful liver transplantation in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: Case report.
    Pediatric transplantation, 2021, Volume: 25, Issue:6

    Topics: Child; Humans; Hyperammonemia; Liver Transplantation; Male; Ornithine; Urea Cycle Disorders, Inborn

2021
Bile-duct ligation renders the brain susceptible to hypotension-induced neuronal degeneration: Implications of ammonia.
    Journal of neurochemistry, 2021, Volume: 157, Issue:3

    Topics: Ammonia; Animals; Antigens, Nuclear; Anxiety; Apoptosis; Behavior, Animal; Bile Ducts; Caspase 3; Cerebrovascular Circulation; Disease Models, Animal; Hepatic Encephalopathy; Hyperammonemia; Hypotension; Ligation; Male; Nerve Tissue Proteins; Neurodegenerative Diseases; Neurons; Ornithine; Rats; Rats, Sprague-Dawley

2021
Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.
    Journal of inherited metabolic disease, 2021, Volume: 44, Issue:5

    Topics: Adolescent; Adult; Age of Onset; Aged; Aged, 80 and over; Argininosuccinic Aciduria; Female; France; Humans; Hyperammonemia; Male; Middle Aged; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Retrospective Studies; Sex Factors; Urea Cycle Disorders, Inborn; Young Adult

2021
Role of early management of hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome in pregnancy.
    BMJ case reports, 2021, Jul-01, Volume: 14, Issue:7

    Topics: Citrulline; Female; Humans; Hyperammonemia; Ornithine; Pregnancy; Urea Cycle Disorders, Inborn

2021
Reversible Leukoencephalopathy in a Man with Childhood-onset Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome.
    Internal medicine (Tokyo, Japan), 2022, Feb-15, Volume: 61, Issue:4

    Topics: Ammonia; Child; Humans; Hyperammonemia; Leukoencephalopathies; Male; Middle Aged; Ornithine; Urea Cycle Disorders, Inborn

2022
Safety, tolerability, and pharmacokinetics of l-ornithine phenylacetate in patients with acute liver injury/failure and hyperammonemia.
    Hepatology (Baltimore, Md.), 2018, Volume: 67, Issue:3

    Topics: Acetates; Adolescent; Adult; Aged; Ammonia; Female; Glutamine; Humans; Hyperammonemia; Kidney Function Tests; Liver; Liver Failure, Acute; Male; Middle Aged; Ornithine; Phenols; Registries; Treatment Outcome; Young Adult

2018
Lactate/pyruvate in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
    Pediatrics international : official journal of the Japan Pediatric Society, 2018, Volume: 60, Issue:8

    Topics: Arginine; Diet, Protein-Restricted; Humans; Hyperammonemia; Infant; Lactates; Male; Ornithine; Pyruvates; Urea Cycle Disorders, Inborn

2018
Pharmacologic rescue of hyperammonemia-induced toxicity in zebrafish by inhibition of ornithine aminotransferase.
    PloS one, 2018, Volume: 13, Issue:9

    Topics: Acetates; Animals; Hyperammonemia; Ornithine; Ornithine-Oxo-Acid Transaminase; Receptors, N-Methyl-D-Aspartate; Signal Transduction; Zebrafish

2018
Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report.
    Journal of medical case reports, 2018, Sep-23, Volume: 12, Issue:1

    Topics: Female; Humans; Hyperammonemia; Internet; Male; Middle Aged; Ornithine; Unconsciousness; Urea Cycle Disorders, Inborn

2018
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.
    Journal of inherited metabolic disease, 2019, Volume: 42, Issue:6

    Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Cross-Sectional Studies; Dietary Supplements; Europe; Feasibility Studies; Female; Humans; Hyperammonemia; Infant; Male; Ornithine; Propionic Acidemia; Registries; Retrospective Studies; Treatment Outcome; Urea Cycle Disorders, Inborn; Young Adult

2019
Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency, based on the mouse model.
    Scientific reports, 2019, 03-12, Volume: 9, Issue:1

    Topics: Amino Acids; Ammonia; Ammonium Chloride; Animals; Aspartic Acid; Citrulline; Citrullinemia; Disease Models, Animal; Glycerolphosphate Dehydrogenase; Hyperammonemia; Intestine, Small; Lactates; Liver; Mice, Inbred C57BL; Mice, Knockout; Mitochondrial Membrane Transport Proteins; Organ Specificity; Ornithine; Perfusion; Portal Vein; Pyruvic Acid; Urea

2019
Disturbance of redox homeostasis by ornithine and homocitrulline in rat cerebellum: a possible mechanism of cerebellar dysfunction in HHH syndrome.
    Life sciences, 2013, Aug-06, Volume: 93, Issue:4

    Topics: Aconitate Hydratase; Animals; Cerebellum; Citrulline; Creatine Kinase; Electron Transport; Glutathione; Homeostasis; Hydrogen Peroxide; Hyperammonemia; Ketoglutarate Dehydrogenase Complex; Nerve Tissue Proteins; Nitrates; Nitrites; Ornithine; Oxidation-Reduction; Rats; Rats, Wistar; Sodium-Potassium-Exchanging ATPase; Thiobarbituric Acid Reactive Substances; Urea Cycle Disorders, Inborn

2013
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome: a treatable genetic liver disease warranting urgent diagnosis.
    Hong Kong medical journal = Xianggang yi xue za zhi, 2014, Volume: 20, Issue:1

    Topics: Amino Acid Transport Systems, Basic; Amino Acids; Child; Child, Preschool; Heterozygote; Humans; Hyperammonemia; Infant; Infant, Newborn; Male; Mitochondrial Membrane Transport Proteins; Neonatal Screening; Ornithine; Prenatal Diagnosis; Urea Cycle Disorders, Inborn

2014
High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency.
    Clinica chimica acta; international journal of clinical chemistry, 2014, Sep-25, Volume: 436

    Topics: Biomarkers; Creatine; Creatinine; Filtration; Glycine; Humans; Hyperammonemia; Infant, Newborn; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Paper; Reference Values; Reproducibility of Results; Tandem Mass Spectrometry; Uracil; Urea Cycle Disorders, Inborn; Urinalysis

2014
L-Ornithine phenylacetate reduces ammonia in pigs with acute liver failure through phenylacetylglycine formation: a novel ammonia-lowering pathway.
    American journal of physiology. Gastrointestinal and liver physiology, 2014, Nov-15, Volume: 307, Issue:10

    Topics: Ammonia; Animals; Biomarkers; Brain; Disease Models, Animal; Female; Glycine; Hyperammonemia; Kidney; Liver Failure, Acute; Ornithine; Random Allocation; Swine; Time Factors

2014
Ocular manifestations in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: a rare association.
    Retinal cases & brief reports, 2015,Spring, Volume: 9, Issue:2

    Topics: Adolescent; Diagnosis, Differential; Fluorescein Angiography; Fovea Centralis; Fundus Oculi; Humans; Hyperammonemia; Male; Myopia; Ornithine; Retinal Degeneration; Tomography, Optical Coherence; Urea Cycle Disorders, Inborn; Vitreous Body

2015
Ornithine In Vivo Administration Disrupts Redox Homeostasis and Decreases Synaptic Na(+), K (+)-ATPase Activity in Cerebellum of Adolescent Rats: Implications for the Pathogenesis of Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome.
    Cellular and molecular neurobiology, 2015, Volume: 35, Issue:6

    Topics: Animals; Antioxidants; Cerebellum; Glutathione; Homeostasis; Hyperammonemia; Lipid Peroxidation; Male; Malondialdehyde; Ornithine; Oxidation-Reduction; Rats; Rats, Wistar; Sexual Maturation; Sodium-Potassium-Exchanging ATPase; Synapses; Urea Cycle Disorders, Inborn

2015
Pathogenic potential of SLC25A15 mutations assessed by transport assays and complementation of Saccharomyces cerevisiae ORT1 null mutant.
    Molecular genetics and metabolism, 2015, Volume: 115, Issue:1

    Topics: Amino Acid Transport Systems, Basic; Arginine; Biological Transport; Culture Media; Escherichia coli; Genetic Complementation Test; Humans; Hyperammonemia; Liposomes; Mitochondrial Membrane Transport Proteins; Mutation, Missense; Ornithine; Recombinant Proteins; Saccharomyces cerevisiae; Saccharomyces cerevisiae Proteins; Urea Cycle Disorders, Inborn

2015
An Acute Encephalopathy Accelerated by a Large Amount of Milk Consumption.
    The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, 2016, Volume: 43, Issue:2

    Topics: Adult; Animals; Drinking; Humans; Hyperammonemia; Male; Milk; Native Hawaiian or Other Pacific Islander; Ornithine; Urea Cycle Disorders, Inborn

2016
Ornithine and Homocitrulline Impair Mitochondrial Function, Decrease Antioxidant Defenses and Induce Cell Death in Menadione-Stressed Rat Cortical Astrocytes: Potential Mechanisms of Neurological Dysfunction in HHH Syndrome.
    Neurochemical research, 2016, Volume: 41, Issue:9

    Topics: Amino Acid Transport Systems, Basic; Animals; Antioxidants; Astrocytes; Cell Death; Citrulline; Hyperammonemia; Male; Mitochondria; Ornithine; Rats, Wistar; Tumor Necrosis Factor-alpha; Urea Cycle Disorders, Inborn

2016
Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.
    Journal of medical genetics, 2008, Volume: 45, Issue:11

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Child; Child, Preschool; Citrulline; Founder Effect; Homozygote; Humans; Hyperammonemia; Infant; Mutation; Ornithine; Phenotype; Syndrome

2008
Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency.
    Journal of inherited metabolic disease, 2008, Volume: 31 Suppl 2

    Topics: Adult; Amino Acids; Ammonia; Arginine; Biomarkers; Chromatography, Ion Exchange; Coma; Glutamine; Humans; Hyperammonemia; Hyperargininemia; Lysine; Male; Ornithine

2008
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
    Human mutation, 2009, Volume: 30, Issue:5

    Topics: Adult; Amino Acid Transport Systems, Basic; Biological Transport; Child; Child, Preschool; Citrulline; Escherichia coli; Female; Humans; Hyperammonemia; Infant; Infant, Newborn; Male; Middle Aged; Mitochondrial Membrane Transport Proteins; Mutant Proteins; Mutation; Ornithine; Protein Structure, Secondary; Syndrome

2009
The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
    Pediatric research, 2009, Volume: 66, Issue:1

    Topics: Amino Acid Transport Systems, Basic; Animals; Astrocytes; Carnitine Acyltransferases; Central Nervous System; Citrullinemia; DNA Primers; Fibroblasts; Fluorescent Antibody Technique, Indirect; Humans; Hyperammonemia; Mice; Mitochondrial Proteins; Ornithine; Reverse Transcriptase Polymerase Chain Reaction; Syndrome

2009
Alternative pathway therapy for hyperammonemia in liver failure.
    Hepatology (Baltimore, Md.), 2009, Volume: 50, Issue:1

    Topics: Drug Therapy, Combination; Humans; Hyperammonemia; Liver Failure; Ornithine; Phenylacetates

2009
Retinal degeneration.
    Ophthalmology, 2009, Volume: 116, Issue:8

    Topics: Adult; Amino Acid Transport Systems, Basic; Cataract; Citrulline; Consanguinity; Creatine; Diet, Protein-Restricted; Female; Humans; Hyperammonemia; Metabolism, Inborn Errors; Mitochondrial Membrane Transport Proteins; Ornithine; Retinal Degeneration; Syndrome; Vision Disorders

2009
Evidence that the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome induce oxidative stress in brain of young rats.
    International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 2009, Volume: 27, Issue:7

    Topics: Animals; Antioxidants; Brain; Citrulline; Glutathione; Humans; Hyperammonemia; Lipid Peroxidation; Male; Nitric Oxide; Ornithine; Oxidation-Reduction; Oxidative Stress; Rats; Rats, Wistar; Syndrome; Thiobarbituric Acid Reactive Substances

2009
Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan.
    Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3

    Topics: Amino Acid Transport Systems, Basic; Biomarkers; DNA Mutational Analysis; Dried Blood Spot Testing; Gene Frequency; Genetic Predisposition to Disease; Genetic Testing; Heterozygote; Homozygote; Humans; Hyperammonemia; Incidence; Infant, Newborn; Mitochondrial Membrane Transport Proteins; Mutation; Neonatal Screening; Ornithine; Phenotype; Polymerase Chain Reaction; Predictive Value of Tests; Prospective Studies; Retrospective Studies; Saskatchewan; Tandem Mass Spectrometry; Time Factors; Urea Cycle Disorders, Inborn

2010
Dual mechanism of brain damage induced in vivo by the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
    Brain research, 2011, Jan-19, Volume: 1369

    Topics: Animals; Cerebral Cortex; Citrulline; Hyperammonemia; Injections, Intraventricular; Lipid Peroxidation; Ornithine; Oxidative Stress; Rats; Rats, Wistar; Urea Cycle Disorders, Inborn

2011
Reduction in hyperammonaemia by ornithine phenylacetate prevents lipopolysaccharide-induced brain edema and coma in cirrhotic rats.
    Liver international : official journal of the International Association for the Study of the Liver, 2012, Volume: 32, Issue:3

    Topics: Animals; Antibodies, Monoclonal; Bile Ducts; Blotting, Western; Body Water; Brain; Brain Edema; Cytokines; Hyperammonemia; Infliximab; Injections, Intraperitoneal; Interleukin-6; Ligation; Lipopolysaccharides; Liver Cirrhosis; Ornithine; Rats; Tumor Necrosis Factor-alpha

2012
Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1.
    PloS one, 2012, Volume: 7, Issue:1

    Topics: Amino Acid Sequence; Amino Acid Transport Systems, Basic; Binding Sites; Computer Simulation; Humans; Hyperammonemia; Mitochondrial Membrane Transport Proteins; Models, Molecular; Molecular Dynamics Simulation; Molecular Sequence Data; Mutation; Ornithine; Protein Binding; Protein Interaction Domains and Motifs; Protein Interaction Mapping; Sequence Homology, Amino Acid; Urea Cycle Disorders, Inborn

2012
Long-term follow-up of four patients affected by HHH syndrome.
    Clinica chimica acta; international journal of clinical chemistry, 2012, Jul-11, Volume: 413, Issue:13-14

    Topics: Adult; Amino Acid Transport Systems, Basic; Amino Acids; Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; Disease Progression; DNA Mutational Analysis; Female; Follow-Up Studies; Humans; Hyperammonemia; Male; Middle Aged; Mitochondrial Membrane Transport Proteins; Ornithine; Phenotype; Time Factors; Urea Cycle Disorders, Inborn

2012
Hyperammonemia in a patient with late-onset ornithine carbamoyltransferase deficiency.
    Journal of Korean medical science, 2012, Volume: 27, Issue:5

    Topics: Age of Onset; Ammonia; Arginine; Citrulline; Humans; Hyperammonemia; Male; Middle Aged; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Pedigree; Renal Dialysis; Sodium Benzoate

2012
Interorgan metabolism of ornithine phenylacetate (OP)--a novel strategy for treatment of hyperammonemia.
    Biochemical pharmacology, 2013, Jan-01, Volume: 85, Issue:1

    Topics: Acetates; Ammonia; Animals; Arteries; Bile Ducts; Drug Interactions; Female; Glutamine; Hyperammonemia; Kidney; Ligation; Liver; Liver Cirrhosis, Biliary; Muscle, Skeletal; Nitrogen Isotopes; Ornithine; Phenols; Rats; Rats, Wistar; Tissue Distribution

2013
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition.
    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2013, Volume: 34, Issue:9

    Topics: Adult; Amino Acid Sequence; Amino Acid Transport Systems, Basic; Base Sequence; Humans; Hyperammonemia; Male; Mitochondrial Membrane Transport Proteins; Molecular Sequence Data; Mutation; Ornithine; Urea Cycle Disorders, Inborn

2013
Effects of ornithine alpha-ketoglutarate on circulatory antioxidants and lipid peroxidation products in ammonium acetate treated rats.
    Annals of nutrition & metabolism, 2002, Volume: 46, Issue:3-4

    Topics: Acetates; Analysis of Variance; Animals; Antioxidants; Ascorbic Acid; Hyperammonemia; Lipid Peroxidation; Lipids; Liver; Nitrogen; Ornithine; Rats; Rats, Wistar; Thiobarbituric Acid Reactive Substances; Urea; Vitamin E

2002
The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.
    The Journal of biological chemistry, 2003, Aug-29, Volume: 278, Issue:35

    Topics: Amino Acid Transport Systems, Basic; Arginine; Biological Transport; Carrier Proteins; Citrulline; DNA, Complementary; Electrophoresis, Polyacrylamide Gel; Humans; Hyperammonemia; Kinetics; Liposomes; Liver; Lysine; Malates; Membrane Transport Proteins; Mitochondria; Models, Biological; Mutation; Ornithine; Phosphates; Protein Folding; Protein Isoforms; Recombinant Proteins; Reverse Transcriptase Polymerase Chain Reaction; Substrate Specificity; Time Factors; Tissue Distribution; Transcription, Genetic

2003
Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder.
    Molecular genetics and metabolism, 2003, Volume: 79, Issue:4

    Topics: Amino Acid Sequence; Amino Acid Transport Systems, Basic; Cell Line; Citrulline; Cloning, Molecular; Fibroblasts; Gene Frequency; Humans; Hyperammonemia; Membrane Transport Proteins; Mitochondrial Membrane Transport Proteins; Molecular Sequence Data; Ornithine; Polymorphism, Genetic; Proteins; Syndrome

2003
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.
    Journal of the neurological sciences, 2004, Mar-15, Volume: 218, Issue:1-2

    Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Arabs; Child, Preschool; Citrulline; DNA Mutational Analysis; Exons; Family Health; Gas Chromatography-Mass Spectrometry; Glycine; Humans; Hyperammonemia; Lactic Acid; Male; Mitochondrial Diseases; Mitochondrial Membrane Transport Proteins; Mutation; Ornithine; Polymerase Chain Reaction; Proteins

2004
Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.
    European journal of pediatrics, 2005, Volume: 164, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Cataract; Child; Child, Preschool; Citrulline; delta-1-Pyrroline-5-Carboxylate Reductase; Female; Humans; Hyperammonemia; Male; Mutation, Missense; Ornithine; Phenotype; Proline; Pyrroline Carboxylate Reductases

2005
Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:5

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Diagnosis, Differential; Female; Fibroblasts; Glutamine; Humans; Hyperammonemia; Infant, Newborn; Male; Mutation; Neonatal Screening; Ornithine; Ornithine-Oxo-Acid Transaminase; Orotic Acid

2005
Amino acid changes during successful pregnancy in a case of lysinuric protein insufficiency.
    Gynecologic and obstetric investigation, 2006, Volume: 61, Issue:3

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Biological Transport; Biomarkers; Diet, Protein-Restricted; Female; Humans; Hyperammonemia; Lysine; Ornithine; Pregnancy; Pregnancy Complications

2006
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.
    Journal of inherited metabolic disease, 2006, Volume: 29, Issue:1

    Topics: Alanine Transaminase; Amino Acid Transport Systems, Basic; Arginine; Aspartate Aminotransferases; Child, Preschool; Citrulline; Diet, Protein-Restricted; Hepatitis; Humans; Hyperammonemia; Liver; Male; Metabolism, Inborn Errors; Mitochondrial Membrane Transport Proteins; Ornithine; Proteins; Syndrome

2006
Ornithine restores ureagenesis capacity and mitigates hyperammonemia in Otc(spf-ash) mice.
    The Journal of nutrition, 2006, Volume: 136, Issue:7

    Topics: Amino Acids; Animals; Glutamine; Hyperammonemia; Mice; Ornithine; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Urea

2006
Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
    Pediatric research, 2006, Volume: 60, Issue:4

    Topics: Adolescent; Adult; Amino Acid Transport Systems, Basic; Child; Citrullinemia; DNA, Mitochondrial; Female; Haplotypes; Humans; Hyperammonemia; Male; Metabolic Diseases; Mitochondrial Membrane Transport Proteins; Mutation; Ornithine; Pedigree; Phenotype; Polymorphism, Genetic; Proteins; RNA, Messenger; Syndrome

2006
L-Ornithine phenylacetate (OP): a novel treatment for hyperammonemia and hepatic encephalopathy.
    Medical hypotheses, 2007, Volume: 69, Issue:5

    Topics: Ammonia; Drug Therapy, Combination; Hepatic Encephalopathy; Humans; Hyperammonemia; Liver; Models, Biological; Muscle, Skeletal; Ornithine; Phenylacetates

2007
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.
    Journal of the neurological sciences, 2008, Jan-15, Volume: 264, Issue:1-2

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Brain; Brain Diseases, Metabolic, Inborn; Child; Child, Preschool; Citrulline; DNA Mutational Analysis; Female; Food, Formulated; Genetic Markers; Genetic Predisposition to Disease; Genetic Testing; Genotype; Humans; Hyperammonemia; Magnetic Resonance Imaging; Male; Mitochondrial Membrane Transport Proteins; Mutation; Ornithine; Pedigree; Saudi Arabia; Sodium Benzoate; Stroke

2008
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) presenting with acute fulminant hepatic failure.
    Journal of pediatric gastroenterology and nutrition, 2008, Volume: 46, Issue:3

    Topics: Amino Acid Transport Systems, Basic; Citrulline; Diet, Protein-Restricted; Female; Humans; Hyperammonemia; Infant; Liver Failure, Acute; Liver Transplantation; Metabolism, Inborn Errors; Mitochondrial Membrane Transport Proteins; Ornithine; Point Mutation; Syndrome

2008
Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency.
    Southern medical journal, 2008, Volume: 101, Issue:5

    Topics: Adult; Arginine; Carcinoma, Hepatocellular; Citrulline; Female; Glutamine; Hepatic Encephalopathy; Humans; Hyperammonemia; Liver Neoplasms; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Polymorphism, Single-Stranded Conformational; Syndrome

2008
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.
    Human molecular genetics, 2000, Nov-22, Volume: 9, Issue:19

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Catalytic Domain; Child; CHO Cells; Citrulline; Cricetinae; DNA Mutational Analysis; Female; Fibroblasts; France; Humans; Hyperammonemia; Male; Mutation; Ornithine; Ornithine-Oxo-Acid Transaminase; Pedigree; Phenotype; Proline; RNA, Messenger; Transfection

2000
HHH syndrome associated with callosal agenesis and disordered neuronal migration.
    Developmental medicine and child neurology, 2001, Volume: 43, Issue:6

    Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Bronchopulmonary Sequestration; Citrulline; Consanguinity; Female; Humans; Hyperammonemia; Infant; Metabolism, Inborn Errors; Ornithine; Phenotype; Syndrome

2001
Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry.
    Journal of inherited metabolic disease, 2001, Volume: 24, Issue:3

    Topics: Amino Acid Sequence; Amino Acids; Ammonia; Arginine; Argininosuccinate Lyase; Argininosuccinic Acid; Argininosuccinic Aciduria; Base Sequence; Citrulline; Coma; Frameshift Mutation; Humans; Hyperammonemia; Infant, Newborn; Mass Spectrometry; Molecular Sequence Data; Neonatal Screening; Ornithine

2001
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
    Neurology, 2001, Sep-11, Volume: 57, Issue:5

    Topics: Adolescent; Adult; Brain Diseases, Metabolic, Inborn; Child; Citrulline; Female; Humans; Hyperammonemia; Male; Mitochondria, Muscle; Mutation; Ornithine; Paraparesis, Spastic; Retrospective Studies

2001
Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
    Human mutation, 2001, Volume: 18, Issue:5

    Topics: Age of Onset; Alleles; Amino Acid Transport Systems, Basic; Base Sequence; Citrulline; DNA Mutational Analysis; Exons; Female; Fibroblasts; Humans; Hyperammonemia; Infant, Newborn; Italy; Male; Metabolism, Inborn Errors; Mitochondrial Membrane Transport Proteins; Mutation; Ornithine; Pedigree; Polymorphism, Restriction Fragment Length; Proteins; Reverse Transcriptase Polymerase Chain Reaction; Syndrome

2001