Compounds > homocitrulline
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homocitrulline and Hyperammonemia

homocitrulline has been researched along with Hyperammonemia in 19 studies

Research

Studies (19)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's16 (84.21)29.6817
2010's3 (15.79)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Busanello, EN; Grings, M; Leipnitz, G; Moura, AP; Tonin, AM; Viegas, CM; Wajner, M; Zanatta, A1
Amaral, AU; Quincozes-Santos, A; Rodrigues, MD; Souza, DG; Wajner, M; Zanatta, Â1
Debray, FG; Drouin, R; Dubé, J; Fenyves, D; Laframboise, R; Lambert, M; Lemieux, B; Maranda, B; Mitchell, GA; Soucy, JF1
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
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
Busanello, EN; de Moura, AP; Ferreira, Gda C; Grings, M; Ritter, L; Schuck, PF; Sitta, A; Tonin, AM; Vargas, CR; Viegas, CM; Wajner, M1
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
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
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
Gallagher, AC; Pike, M; Standing, S1
Ohura, T; Sakamoto, O1
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

3 review(s) available for homocitrulline and Hyperammonemia

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

    Topics: Citrulline; Humans; Hyperammonemia; Ornithine; Syndrome

2001
[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

16 other study(ies) available for homocitrulline and Hyperammonemia

ArticleYear
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
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
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
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
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
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
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
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
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
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