ornithine has been researched along with Amino Acid Metabolism Disorders, Inborn in 183 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 122 (66.67) | 18.7374 |
| 1990's | 35 (19.13) | 18.2507 |
| 2000's | 17 (9.29) | 29.6817 |
| 2010's | 8 (4.37) | 24.3611 |
| 2020's | 1 (0.55) | 2.80 |
| Authors | Studies |
|---|---|
| Hoeks, M; Huigen, M; IJzermans, T; Nijenhuis, T; Rennings, A; van der Meijden, W | 1 |
| Dar, DE; Dumin, E; Idin, A; Korman, SH; Tal, G | 1 |
| Barić, I; Burgard, P; Chapman, KA; Gleich, F; Kölker, S; Lund, AM; Molema, F; Summar, ML; van der Ploeg, AT; Williams, M | 1 |
| Cheillan, D; Dessein, AF; Dobbelaere, D; Fontaine, M; Joncquel-Chevalier Curt, M; Mention-Mulliez, K; Porchet, N; Soto-Ares, G; Vamecq, J; Voicu, PM | 1 |
| Debray, FG; Drouin, R; Dubé, J; Fenyves, D; Laframboise, R; Lambert, M; Lemieux, B; Maranda, B; Mitchell, GA; Soucy, JF | 1 |
| Gordon, N | 1 |
| Gibson, KM; Knerr, I; Vockley, J; Weinhold, N | 1 |
| Hietala, M; Kurko, J; Mykkänen, J; Näntö-Salonen, K; Nevalainen, OS; Niinikoski, H; Simell, O; Tanner, L; Tringham, M; Tuikkala, J | 1 |
| Busanello, EN; Grings, M; Knebel, LA; Leipnitz, G; Lobato, VA; Moura, AP; Pettenuzzo, LF; Ritter, L; Tonin, AM; Vargas, CR; Viegas, CM; Wajner, M; Zanatta, A | 1 |
| Busanello, EN; Fernandes, CG; Leipnitz, G; Moura, AP; Seminotti, B; Tonin, AM; Viegas, CM; Wajner, M; Zanatta, A | 1 |
| Mayer, UM | 1 |
| Aalto, M; Lukkarinen, M; Näntö-Salonen, K; Pulkki, K; Simell, O | 1 |
| Mann, GV; Perry, N | 1 |
| HAMBRAEUS, L | 1 |
| DEHEVESY, G; HAMBRAEUS, L | 1 |
| BORLAND, JL; LYNCH, HJ; MCCARTHY, CF; OWEN, EE; TYOR, MP | 1 |
| WOODY, NC | 1 |
| Abu-Libdeh, B; Gutman, A; Kanazawa, N; Korman, SH; Tsujino, S | 1 |
| Baumgartner, MR; Dufier, JL; Kamoun, P; Nassogne, MC; Padovani, JP; Rabier, D; Saudubray, JM; Valle, D | 1 |
| Berger, R; Besley, GT; Cleary, MA; de Koning, TJ; Dorland, L; Duran, M; Mandell, R; Olpin, SE; Poll-The, BT; Shih, VE | 1 |
| Osada, H; Seki, K | 1 |
| Barbier, R; Caron, O; Dollfus, H; Fleury, M; Mohr, M; Tranchant, C; Warter, JM; Ziegler, F | 1 |
| Gibson, B; Gordon, WC; Leach, MT; Robinson, P | 1 |
| Rabier, D; Saudubray, JM | 1 |
| Abu-Amero, KK; Al-Dirbashi, OY; Al-Hassnan, ZN; Patay, Z; Rahbeeni, Z; Rashed, MS | 1 |
| Armstrong, MD; Robinow, M | 1 |
| Arshinoff, SA; Bell, L; Marliss, EB; McCulloch, JC; McInnes, RR | 1 |
| Gray, RG; Hill, SE; Pollitt, RJ | 2 |
| Prisco, F; Rinaldi, E; Santinelli, R; Sicuranza, G; Stoppoloni, G | 1 |
| Perheentupa, J; Rajantie, J; Simell, O | 2 |
| Kang, SS; Melyn, MA; Wong, PW | 1 |
| Behbehani, AW; Gahr, M; Schröter, W | 1 |
| Ban, M; Kato, T; Mizutani, N | 1 |
| Dyken, P; Hommes, FA; Kelloes, C; Metoki, K; Trefz, J | 1 |
| Brusilow, SW | 1 |
| Blankenship, PR; Coryell, ME; Hommes, FA; Roesel, RA | 1 |
| Fujimura, Y; Kawamura, M; Matsuzawa, T; Mizuno, K; Tada, K | 1 |
| Charpentier, C; Coude, FX; Coude, M; Grimber, G; Pelet, A | 1 |
| Evered, DF | 1 |
| Herzfeld, A; Mandell, R; Shih, VE | 2 |
| Cathelineau, L; Charpentier, C; Coude, FX; Frezal, J; Grimber, G; Ogier, H; Parvy, P; Saudubray, JM | 1 |
| Briand, P; Cathelineau, L | 1 |
| Coryell, ME; Gordon, BA; Ho, CK; Hommes, FA; Roesel, RA | 1 |
| Beemer, FA; Desplanque, J; Gerards, LJ; van der Heiden, C; van Dijk, HA | 1 |
| Colombo, JP | 1 |
| Guthrie, R; Naylor, EW; Sumlin, AB; Talbot, HW | 1 |
| Kubota, K; Murakami, T; Yamashita, F; Yoshida, I; Yoshino, M | 1 |
| Batshaw, ML; Brusilow, SW; Walser, M | 1 |
| Akaboshi, I; Katsuki, T; Matsuda, I; Nagata, N; Ohtsuka, H; Yamamoto, J | 1 |
| Gordon, BA; Haust, MD | 1 |
| Gatfield, PD; Gordon, BA; Haust, MD | 1 |
| Briddon, A; Hodes, DT; Laurance, BM; Mushin, AS; Oberholzer, VG | 1 |
| Askanas, V; Brody, L; Dvoretzky, I; Engel, WK; Kaiser-Kupfer, MI; Kuwabara, T; Takki, K | 1 |
| Buist, NR; Kennaway, NG; Weleber, RG | 1 |
| Katsunuma, T; Kusumi, K; Saheki, T; Takada, S; Tsuda, M | 1 |
| Aguirre, G; Boison, AP; Jezyk, P; Valle, DL | 1 |
| Lawler, AM; Milam, AH; Sipila, I; Steel, G; Valle, D; Wang, T | 1 |
| Gray, RG; Green, A; Hall, S; McKeown, C | 1 |
| Firoozmand, S; Ibraheim, AS; Khan, MY | 1 |
| Bébin, B; Candito, M; Chambon, P; Chazalette, JP; Ferraci, JP; Mathieu, M; Sebag, F; Vianey-Saban, C | 1 |
| Mäki, J; Parto, K; Pelliniemi, LJ; Simell, O | 1 |
| Marttinen, M; Parto, K; Simell, O; Svedström, E; Virtama, P | 1 |
| Carson, DJ; Hill, CM; Love, AH; McManus, DT; Moore, R; Rodgers, C | 1 |
| Dewar, RA; Gatfield, DP; Gordon, BA; Haust, MD | 1 |
| Biberoğlu, G; Dílek, EO; Hasanoğlu, A; Memíş, L | 1 |
| Dallaire, L; Feoli-Fonseca, JC; Lambert, M; Melançon, SB; Millington, DS; Mitchell, G; Qureshi, IA | 1 |
| de Martinville, B; Demmer, LA; Dowton, SB; Kim, JM | 1 |
| Haust, MD | 1 |
| Aupetit, J; Bardet, J; Chadefaux-Vekemans, B; Gasquet, M; Kamoun, P; Merhand, E; Oury, JF; Parvy, P; Rabier, D | 1 |
| Aula, P; Lauteala, T; Lukkarinen, M; Mykkänen, J; Savontaus, ML; Simell, J; Simell, O; Sistonen, P | 1 |
| De Deyn, PP; Hanefeld, F; Marescau, B; Stöckler, S; Trijbels, JM | 1 |
| Bonocore, G; Buonocore, G; Ciani, F; Donati, MA; Pasquini, E; Shih, VE; Zammarchi, E | 1 |
| Bottero, S; Caniglia, M; De Felice, L; Dionisi-Vici, C; el Hachem, M; Goffredo, B; Paoloni, A; Rizzo, C; Sabetta, G | 1 |
| Lauteala, T; Lukkarinen, M; Näntö-Salonen, K; Nuutinen, M; Ruuskanen, O; Säkö, S; Simell, O | 1 |
| Ohura, T | 1 |
| Nagao, M; Oyanagi, K | 1 |
| de Baulny, HO; Doireau, V; Drapier, JC; Duval, M; Emilie, D; Faye, A; Fenneteau, O; Schlegel, N; Sterkers, G; Vilmer, E; Yotnda, P | 1 |
| Almashanu, S; Biery, B; Camacho, JA; Casey, R; Goodman, BK; Hu, CA; Lambert, M; Mitchell, GA; Obie, C; Steel, G; Valle, D | 1 |
| Inoue, S; Kawata, S; Kayanoki, Y; Kiso, S; Matsuzawa, Y; Tamura, S; Taniguchi, N; Yamasaki, E | 1 |
| Fukushige, T; Kobayashi, K; Li, MX; Nakajima, T; Saheki, T; Seiler, N | 1 |
| Celli, M; Crifò, C; D'Eufemia, P; Finocchiaro, R; Giardini, O; Salerno, C | 1 |
| Eto, Y; Kanazawa, N; Kira, J; Ohashi, T; Saito, T; Tsujino, S; Yamada, T | 1 |
| Heinonen, OJ; Näntö-Salonen, K; Peltola, K; Pulkki, K; Simell, O | 1 |
| Almashanu, S; Aral, B; Baumgartner, MR; Hu, CA; Kamoun, P; Obie, C; Rabier, D; Saudubray, JM; Steel, G; Valle, D | 1 |
| Inoue, T; Inoue, Y; Kanazawa, N; Kato, S; Kawakami, M; Kuhara, T; Miyamoto, T; Takeshita, K; Tsujino, S | 1 |
| Christopher, R; L, N; Shenoi, A | 1 |
| Ebinger, F; Mayatepek, E; Rating, D; Schulze, A | 1 |
| Batshaw, ML; Brusilow, SW | 1 |
| Rodriguez Caballero, ML | 1 |
| Gatfield, PD; Haust, MD; Taller, E; Wolfe, DM | 1 |
| Gatfield, PD; Haust, MD | 1 |
| Merin, S; Statter, M; Yatziv, S | 1 |
| Similä, S | 1 |
| Berio, A | 1 |
| François, J | 1 |
| Rapola, J; Sainio, K; Simell, O; Sipilä, I; Tuuteri, L | 1 |
| Bakker, HD; Brink, M; de Bree, PK; Desplanque, J; van der Heiden, C; Wadman, SK | 1 |
| Fell, V; Pollitt, RJ | 1 |
| Briddon, A; Oberholzer, VG | 1 |
| Ellory, JC; Tucker, EM; Young, JD | 1 |
| Arshinoff, SA; Marliss, EB; McCulloch, JC; Parker, JA | 1 |
| Hilsdorf, C; Jaeger, W; Lutz, P; von Kettler, J | 1 |
| Chiba, T; Minami, R; Nakao, T; Oyanagi, K; Sogawa, H | 1 |
| Gatfield, PD; Gordon, BA; Taller, E | 1 |
| Carson, NA; Redmond, OA | 1 |
| Billmeier, GJ; Cavallo, K; Chan, H; Molinary, SV; Schaffer, A; Shin, BC; Tucker, HN | 1 |
| Batshaw, M; Brusilow, S; Robinson, B; Sherwood, G; Walser, M | 1 |
| Jarosch, E; Plöchl, E | 1 |
| Hansen, S; MacLean, J; Perry, TL | 1 |
| Simell, O; Takki, K | 2 |
| Shih, VE | 1 |
| Amacher, AL; Bolton, RJ; Gatfield, PD | 1 |
| Horisawa, S; Kato, T; Tanaka, E | 1 |
| Simell, O | 1 |
| Eskelin, LE; Perheentupa, J; Rapola, J; Simell, O; Visakorpi, JK | 1 |
| Marliss, EB; McCulloch, C | 1 |
| Goto, I; Kobayashi, T; Shigeto, H; Yamada, T | 1 |
| Shimizu, H | 1 |
| Morino, Y; Tanase, S | 1 |
| Arbour, JF; Dubé, J; Flessas, J; Laberge, M; Lafleur, L; Lambert, MA; Lemay, JF; Mitchell, GA; Valle, D; Vanasse, M | 1 |
| Laframboise, R; Mandell, R; Pichette, J; Shih, VE | 1 |
| Brochu, P; Jasmin, G; Lambert, MA; Qureshi, IA; Seidman, EG; Smith, L | 1 |
| Kameyama, M; Sawada, H; Seriu, N; Sugiyama, H; Udaka, F | 1 |
| Atanasova, E | 1 |
| Eto, Y; Maekawa, K; Shimizu, H | 1 |
| Inoue, I; Kuno, T; Miyazaki, S; Saheki, T | 1 |
| Kato, T; Mizutani, N; Sano, M | 1 |
| Botschner, J; Scriver, CR; Simell, O; Smith, DW | 1 |
| Bates, D; Dale, G; Shaw, PJ | 1 |
| Bonnefont, JP; Chadefaux, B; Kamoun, P; Rabier, D; Saudubray, JM; Shih, VE | 1 |
| Alme, A; Broch, H; Gjessing, LR; Lie, SO; Lunde, HA; Undrum, T | 1 |
| Alvarez, L; Coude, FX; Fabregas, I; Fernandez Alvarez, E; Grimber, G; Pineda, M; Ribes, A; Rodes, M | 1 |
| Bachmann, C; Colombo, JP; Dionisi Vici, C; Gambarara, M; Sabetta, G | 1 |
| Inoue, I; Kayanuma, K; Koike, R; Koura, M; Miyatake, T; Nakajima, M; Saheki, T; Takeshita, K; Uono, M; Yuasa, T | 1 |
| Hayakawa, C; Kato, T; Mizutani, N; Sano, M | 1 |
| Leonard, JV; Michalski, A; Taylor, DS | 1 |
| Inoue, I; Kayanuma, K; Koike, R; Miyatake, T; Nakajima, M; Saheki, T; Sakoda, K; Takeshita, K; Uono, M; Yuasa, T | 1 |
| Akiyoshi, H; Ichihara, K; Inoue, I; Ishii, S; Mito, T; Nakajima, M; Saheki, T; Takakura, H; Takashima, S; Takeshita, K | 1 |
| Hayakawa, C; Maehara, M; Mizutani, N; Watanabe, K | 1 |
| Fujimori, K; Koike, R; Miyatake, T; Yuasa, T | 1 |
| Gatfield, DP; Gordon, BA; Haust, MD | 1 |
| Fujimori, K; Inoue, I; Koike, R; Miyatake, T; Saheki, T; Yuasa, T | 1 |
| Simell, O; Sipilä, I; Vannas-Sulonen, K | 1 |
| Dyken, PR; Hartlage, PL; Hommes, FA; Metoki, K; Roesel, RA | 1 |
| Clow, CL; Mackenzie, S; Scriver, CR; Simell, O | 1 |
| Aakesson, I; Alvsaker, JO; Sletten, K | 1 |
| Mandell, R; Shih, VE | 1 |
| Fluharty, AL; Kihara, H; Porter, MT; Valente, M | 1 |
| Ratner, S | 1 |
| Goodman, SI; Phang, JM; Valle, DL | 1 |
| Brenton, DP; Cusworth, DC; Hartley, S; Kuzemko, JA; Lumley, S | 1 |
| Ampola, MG | 1 |
| Levy, HL | 1 |
| Pollitt, R; Wright, T | 1 |
| Teijema, HL; van Gelderen, HH | 1 |
| Fell, V; Pollitt, RJ; Sampson, GA; Wright, T | 1 |
| Takki, K | 1 |
| Perheentupa, J; Simell, O | 1 |
| Cathelineau, L; Polonovski, C; Saudubray, JM | 1 |
| Szliwowski, HB; Thiriar, MJ; Vis, HL | 1 |
| Lee, DJ | 1 |
| Freeman, JM; Levy, HL; Lindenbaum, JE; Sunshine, P | 1 |
| Burt, D; Emery, AE | 1 |
| Berenberg, W; Kang, ES | 1 |
| Barkin, E; Levy, HL | 1 |
| Bickel, H; Feist, D; Müller, H; Quadbeck, G | 1 |
| Schulman, JD; Shih, VE | 1 |
| Miura, R; Oyanagi, K; Yamanouchi, T | 1 |
| Copeland, W; Kelly, S; Leikhim, E | 1 |
| Antener, I | 1 |
| Brodehl, J; Gellissen, K; Kowalewski, S | 1 |
| Harmeyer, J; Plonait, H | 1 |
| Scriver, CR; Whelan, DT | 1 |
| Efron, ML; Moser, HW; Shih, VE | 1 |
| Bickel, H; Feist, D; Kekomäki, M; Müller, H; Quadbeck, G | 1 |
| Bickel, H; Kekomäki, MP; Räihä, NC | 1 |
| Frimpter, GW; Strickler, JC | 1 |
| Bernasowska-Knapczykowa, K; Hanicka, M; Kos, S | 1 |
13 review(s) available for ornithine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Creatine biosynthesis and transport in health and disease.
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 |
Guanidinoacetate methyltransferase deficiency (GAMT).
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Creatine; Diagnosis, Differential; Diet, Protein-Restricted; Dietary Supplements; Guanidinoacetate N-Methyltransferase; Humans; Learning Disabilities; Magnetic Resonance Imaging; Ornithine | 2010 |
Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Animals; Creatinine; Humans; Maple Syrup Urine Disease; Mass Spectrometry; Metabolomics; Mice; Mice, Knockout; Mice, Transgenic; Ornithine; Phenotype; Risk | 2012 |
Biomarkers identified in inborn errors for lysine, arginine, and ornithine.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Biomarkers; Humans; Lysine; Ornithine | 2007 |
Advances in amino acid metabolism in mammals.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acid Oxidoreductases; Amino Acids; Animals; Biological Transport; Dietary Proteins; Glutamates; Glycine; Humans; Liver; Mitochondria; Organ Specificity; Ornithine; Purine Nucleotides; Serine; Threonine; Transaminases | 1981 |
Some regulatory aspects of urea synthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Carbamyl Phosphate; Citric Acid Cycle; Dietary Proteins; Female; Glutamates; Humans; Male; Ornithine; Proteins; Urea | 1981 |
[Gyrate atrophy of the choroid and retina].
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Diagnosis, Differential; Disease Models, Animal; Gyrate Atrophy; Humans; Infant, Newborn; Mice; Mice, Knockout; Ornithine; Ornithine-Oxo-Acid Transaminase; Prognosis | 1998 |
[Hyperornithinemia-hyperammonemia-homocitrullinuria (H.H.H.) syndrome].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Diagnosis, Differential; Humans; Infant, Newborn; Ornithine; Ornithine-Oxo-Acid Transaminase; Syndrome | 1998 |
Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome: presentation as acute liver disease with coagulopathy.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Blood Coagulation Disorders; Child, Preschool; Citrulline; Female; Humans; Liver Diseases; Liver Function Tests; Ornithine; Syndrome | 1992 |
The eye and inherited metabolic disease: a review.
Topics: Abetalipoproteinemia; Amino Acid Metabolism, Inborn Errors; Eye Diseases; Homocystinuria; Humans; Metabolism, Inborn Errors; Ornithine; Tyrosine | 1988 |
Enzymes of arginine and urea synthesis.
Topics: Aging; Amino Acid Metabolism, Inborn Errors; Animals; Arginase; Arginine; Binding Sites; Carbamates; Dietary Proteins; Humans; Kinetics; Liver; Lyases; Organ Specificity; Ornithine; Ornithine Carbamoyltransferase; Phosphotransferases; Species Specificity; Succinates; Urea | 1973 |
Phenylketonuria and other disorders of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Counseling; Cystathionine; Cystinosis; Cystinuria; Diet Therapy; Dietary Proteins; Family; Female; Hartnup Disease; Histidine; Homocystinuria; Humans; Hyperglycemia; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Ornithine; Phenylketonurias; Pregnancy; Proline; Tyrosine | 1973 |
Genetic screening.
Topics: Amino Acid Metabolism, Inborn Errors; Anemia, Sickle Cell; Arginine; Carbohydrate Metabolism, Inborn Errors; Cystinuria; Erythrocytes; Fanconi Syndrome; Galactosemias; Genetics, Population; Glucosephosphate Dehydrogenase; Glycine; Hartnup Disease; Heterozygote; Histidine; Homocystine; Humans; Lysine; Maple Syrup Urine Disease; Mass Screening; Methods; Ornithine; Phenylalanine; Phenylketonurias; Succinates; Tyrosine | 1973 |
2 trial(s) available for ornithine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Chronic sodium benzoate therapy in children with inborn errors of urea synthesis: effect on carnitine metabolism and ammonia nitrogen removal.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Benzoates; Benzoic Acid; Carnitine; Child; Child, Preschool; Female; Humans; Male; Nitrogen; Ornithine; Retrospective Studies; Syndrome; Urea | 1996 |
Oral lysine feeding in gyrate atrophy with hyperornithinaemia--a pilot study.
Topics: Administration, Oral; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Awards and Prizes; Drug Tolerance; Feeding Behavior; Gyrate Atrophy; Humans; Lysine; Male; Middle Aged; Ornithine; Pilot Projects; Societies, Medical | 2000 |
168 other study(ies) available for ornithine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Improving a Rare Metabolic Disorder Through Kidney Transplantation: A Case Report of a Patient With Lysinuric Protein Intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Arginine; Humans; Kidney Transplantation; Lysine; Metabolic Diseases; Ornithine | 2023 |
Argininemia, Hyperornithinemia, and 3-Hydroxyisovaleric Aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Crohn Disease; Humans; Hyperargininemia; Male; Middle Aged; Ornithine; Valerates | 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.
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 |
Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.
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 |
Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI).
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Arginine; Cationic Amino Acid Transporter 1; Child; Female; Finland; Founder Effect; Fusion Regulatory Protein 1, Light Chains; Gene Expression Profiling; Humans; Lysine; Male; Middle Aged; Molecular Sequence Annotation; Molecular Sequence Data; Mutation; Oligonucleotide Array Sequence Analysis; Ornithine; Sequence Analysis, RNA; Transcriptome; Young Adult | 2012 |
Chronic postnatal ornithine administration to rats provokes learning deficit in the open field task.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Animals, Newborn; Avoidance Learning; Behavior, Animal; Citrulline; Cognition; Developmental Disabilities; Disease Models, Animal; Half-Life; Learning Disabilities; Maze Learning; Memory; Memory, Long-Term; Ornithine; Postural Balance; Rats; Rats, Wistar; Thiobarbituric Acid Reactive Substances | 2012 |
Impairment of brain redox homeostasis caused by the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in vivo.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Antioxidants; Brain; Catalase; Citrulline; Glutathione Peroxidase; Homeostasis; Injections, Intraperitoneal; Injections, Intraventricular; Male; Nitric Oxide; Ornithine; Oxidation-Reduction; Oxidative Stress; Protein Carbonylation; Rats; Rats, Wistar; Sulfhydryl Compounds; Thiobarbituric Acid Reactive Substances; Urease | 2012 |
[Hyperornithinaemia in patients with retinal dystrophy].
Topics: Aged; Amino Acid Metabolism, Inborn Errors; Electroretinography; Female; Fluorescein Angiography; Fundus Oculi; Gyrate Atrophy; Humans; Male; Middle Aged; Ornithine; Retinal Dysplasia; Visual Field Tests | 2003 |
Oral supplementation corrects plasma lysine concentrations in lysinuric protein intolerance.
Topics: Absorption; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Female; Humans; Intestinal Absorption; Kidney Tubules; Kinetics; Lysine; Male; Nitrogen; Ornithine; Reference Values; Urea | 2003 |
AMINOACIDURIA AFTER DIETARY LOADING IN HUMAN SUBJECTS.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Cystine; Diet; Dietary Proteins; Humans; Kidney; Lysine; Nitrogen; Ornithine; Proteins; Renal Aminoacidurias; Sulfur; Urine | 1964 |
CYSTINURIA IN SWEDEN. X. QUANTITATIVE STUDIES ON THE URINARY AMINO ACID EXCRETION IN CYSTINURICS.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Chromatography; Cystinuria; Geriatrics; Humans; Lysine; Nephrectomy; Ornithine; Renal Aminoacidurias; Sulfhydryl Compounds; Sweden; Taurine; Urinary Calculi | 1964 |
CYSTINURIA IN SWEDEN. VIII. A CASE OF COELIAC DISEASE ASSOCIATED WITH CYSTINE-LYSINURIA.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Ataxia; Celiac Disease; Chromatography; Creatine; Creatinine; Cystinuria; Electrophoresis; Glucose Tolerance Test; Humans; Infant; Intestine, Small; Intestines; Lysine; Muscle Spasticity; Ornithine; Proteins; Psychomotor Disorders; Renal Aminoacidurias; Sweden; Urine; Vitamin A; Xylose | 1964 |
DEFECTIVE UPTAKE OF BASIC AMINO ACIDS AND L-CYSTINE BY INTESTINAL MUCOSA OF PATIENTS WITH CYSTINURIA.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Basic; Arginine; Carbon Isotopes; Cystine; Cystinuria; Duodenum; Humans; Intestinal Absorption; Intestinal Mucosa; Leucine; Lysine; Mucous Membrane; Ornithine; Phenylalanine | 1964 |
HYPERLYSINEMIA.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Alcohols; Aminobutyrates; Anemia; Arginine; Asthenia; Blood Chemical Analysis; Child; Chromatography; Genetics, Medical; Growth; Humans; Hyperlysinemias; Infant; Lysine; Maple Syrup Urine Disease; Muscular Diseases; Ornithine; Seizures; Urine | 1964 |
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.
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.
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.
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.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Biological Transport; Biomarkers; Diet, Protein-Restricted; Female; Humans; Hyperammonemia; Lysine; Ornithine; Pregnancy; Pregnancy Complications | 2006 |
Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Diet, Protein-Restricted; Gyrate Atrophy; Humans; Male; Muscular Diseases; Ornithine; Ornithine-Oxo-Acid Transaminase; Pyridoxine; Vitamin B Complex | 2007 |
Haemophagocytosis by myeloid precursors in lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Bone Marrow Examination; Child; Cystine; Humans; Lysine; Male; Myeloid Progenitor Cells; Ornithine; Phagocytosis | 2007 |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.
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 |
A case of hyperlysinemia: biochemical and clinical observations.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Autoanalysis; Child, Preschool; Chromatography, Paper; Citrulline; Humans; Intellectual Disability; Lysine; Male; Ornithine | 1967 |
Hyperornithinaemia and gyrate atrophy of the retina: improvement of vision during treatment with a low-arginine diet.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Atrophy; Depression, Chemical; Humans; Male; Ornithine; Ornithine-Oxo-Acid Transaminase; Retinal Degeneration; Visual Acuity | 1981 |
Reduced ornithine catabolism in cultured fibroblasts and phytohaemagglutinin-stimulated lymphocytes from a patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Aspartate Ammonia-Lyase; Cells, Cultured; Citrulline; Fibroblasts; Glutamates; Glutamic Acid; Humans; Lymphocyte Activation; Lymphocytes; Ornithine; Phytohemagglutinins; Proline | 1982 |
Treatment of hyperornithinaemia and gyrate atrophy of choroid and retina with low-protein diet.
Topics: Amino Acid Metabolism, Inborn Errors; Atrophy; Child, Preschool; Choroid; Dietary Proteins; Female; Humans; Ornithine; Retina; Retinal Diseases; Uveal Diseases | 1982 |
Oral administration of urea cycle intermediates in lysinuric protein intolerance: effect on plasma and urinary arginine and ornithine.
Topics: Administration, Oral; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Citrulline; Female; Humans; Intestinal Absorption; Lysine; Ornithine; Urea | 1983 |
"Basolateral" and mitochondrial membrane transport defect in the hepatocytes in lysinuric protein intolerance.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Cell Membrane; Child; Citrulline; Female; Humans; Liver; Lysine; Male; Mitochondria, Liver; Ornithine | 1983 |
Hyperargininemia: effect of ornithine and lysine supplementation.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child; Drug Therapy, Combination; Female; Humans; Lysine; Ornithine | 1983 |
[Lysinuric protein intolerance].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Consanguinity; Dietary Proteins; Female; Ferritins; Humans; Infant; L-Lactate Dehydrogenase; Lysine; Ornithine; Turkey | 1983 |
Studies on the pathway from ornithine to proline in cultured skin fibroblasts with reference to the defect in hyperornithinaemia with hyperammonaemia and homocitrullinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Biological Transport; Cells, Cultured; Citrulline; Fibroblasts; Glutamine; Humans; Mitochondria; Ornithine; Proline; Proteins | 1983 |
Hyperammonemia in lysinuric protein intolerance.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Cystinuria; Humans; Lysine; Male; Ornithine | 1984 |
Ultrastructural changes in fibroblast mitochondria of a patient with HHH-syndrome.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Fibroblasts; Genes, Recessive; Humans; Intracellular Membranes; Microscopy, Electron; Mitochondria; Ornithine; Skin | 1984 |
Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Blood Urea Nitrogen; Carbamoyl-Phosphate Synthase (Ammonia); Child, Preschool; Female; Glutamine; Humans; Infant; Infant, Newborn; Male; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Urea | 1984 |
Gamma-glutamylornithine excretion in patients with hyperornithinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Atrophy; Choroid; Chromatography; Citrulline; Dipeptides; Humans; Ornithine; Retina; Retinal Diseases; Syndrome; Uveal Diseases | 1984 |
Mass screening of urea cycle diseases: a new mass screening method of hyperornithinemia by using two coupling enzymes.
Topics: Amino Acid Metabolism, Inborn Errors; Atrophy; Choroid; Humans; Mass Screening; Ornithine; Retinal Diseases; Spectrometry, Fluorescence; Uveal Diseases | 1983 |
Potentiation by piridoxilate of the synthesis of hippurate from benzoate in isolated rat hepatocytes. An approach to the determination of new pathways of nitrogen excretion in inborn errors of urea synthesis.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Animals; Benzoates; Cells, Cultured; Dose-Response Relationship, Drug; Glycine; Glyoxylates; Hippurates; Liver; Male; Ornithine; Pyridoxine; Rats; Rats, Inbred Strains; Stimulation, Chemical; Urea | 1984 |
Defective ornithine metabolism in the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Fibroblasts; Humans; Ornithine; Pyrroline Carboxylate Reductases | 1981 |
[Lysinuric protein intolerance: a severe hyperammonemia secondary to l-arginine deficiency (author's transl)]].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Female; Humans; Infant; Lysine; Male; Ornithine; Time Factors | 1981 |
Sparse-fur mutation: a model for some human ornithine transcarbamylase deficiencies.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Chromatography, Gel; Electrophoresis, Polyacrylamide Gel; Epoxy Compounds; Hair; Immunodiffusion; Male; Mice; Mice, Mutant Strains; Mitochondria, Liver; Mutation; Ornithine; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Phosphates; Valine | 1982 |
Decreased transport of ornithine across the inner mitochondrial membrane as a cause of hyperornithinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Biological Transport; Child, Preschool; Digitonin; Female; Fibroblasts; Glutamate Dehydrogenase; Humans; Infant; Intracellular Membranes; L-Lactate Dehydrogenase; Mitochondria; Ornithine | 1982 |
A lethal neonatal variant of carbamoyl-phosphate synthetase deficiency in combination with an intermediate activity of L-ornithine: 2-oxoglutarate amino-transferase.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Female; Humans; Infant, Newborn; Ligases; Liver; Ornithine; Ornithine-Oxo-Acid Transaminase; Proline; Transaminases | 1983 |
Defective ornithine metabolism in cultured skin fibroblasts from patients with the syndrome of hyperornithinemia, hyperammonemia and homocitrullinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Cells, Cultured; Citrulline; Fibroblasts; Humans; Models, Chemical; Ornithine; Proteins; Skin | 1982 |
A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Aciduria; Blood Specimen Collection; Citric Acid Cycle; Citrulline; Humans; Infant, Newborn; Lyases; Mass Screening; Ornithine; Urea | 1982 |
Argininemia: report of a new case and mechanisms of orotic aciduria and hyperammonemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child, Preschool; Female; Humans; Hyperargininemia; Ornithine; Orotic Acid; Purine-Pyrimidine Metabolism, Inborn Errors; Urea | 1982 |
Plasma alpha-ketoglutarate in urea cycle enzymopathies and its role as a harbinger of hyperammonemic coma.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthase (Ammonia); Carbamyl Phosphate; Child; Child, Preschool; Coma; Female; Hepatic Encephalopathy; Humans; Infant; Infant, Newborn; Ketoglutaric Acids; Ligases; Lyases; Male; Middle Aged; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease | 1980 |
Ornithine transcarbamylase (OTC) in white blood cells.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Carbamyl Phosphate; Carbon Radioisotopes; Cattle; Cells, Cultured; Humans; Infant; Leukocytes; Liver; Ornithine; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Radioligand Assay | 1980 |
Ultrastructural changes in the mitochondria in disorders in ornithine metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Humans; Mitochondria, Liver; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease | 1980 |
Ultrastructure of hepatic mitochondria in a child with hyperornithinemia, hyperammonemia, and homocitrullinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Citrulline; Humans; Male; Microscopy, Electron; Mitochondria, Liver; Ornithine | 1981 |
Hyperornithinaemia with gyrate atrophy of the choroid and retina in two siblings.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Atrophy; Child; Choroid; Female; Humans; Ornithine; Retina | 1980 |
Systemic manifestations of gyrate atrophy of the choroid and retina.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Atrophy; Child; Choroid; Electroencephalography; Female; Hair; Humans; Male; Middle Aged; Muscles; Ornithine; Ornithine-Oxo-Acid Transaminase; Retinal Degeneration; Uveal Diseases | 1981 |
Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biopsy; Choroid; Female; Glucose Tolerance Test; Heterozygote; Humans; Male; Muscles; Ornithine; Ornithine-Oxo-Acid Transaminase; Pyridoxine; Retinal Diseases; Uveal Diseases | 1980 |
Role of argininosuccinate synthetase in the regulation of urea synthesis in the rat and argininosuccinate synthetase-associated metabolic disorder in man.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonium Chloride; Animals; Argininosuccinate Synthase; Citrulline; Dietary Proteins; Female; Glutamates; Humans; Ligases; Liver; Male; Middle Aged; Ornithine; Rats; Urea | 1980 |
Gyrate atrophy of the choroid and retina in a cat.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Cats; Choroid; Disease Models, Animal; Male; Ornithine; Ornithine-Oxo-Acid Transaminase; Retina; Retinal Degeneration; Transaminases; Uveal Diseases | 1981 |
Mice lacking ornithine-delta-aminotransferase have paradoxical neonatal hypoornithinaemia and retinal degeneration.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Animals; Animals, Newborn; Arginine; Base Sequence; DNA Primers; Food, Fortified; Genotype; Gyrate Atrophy; Humans; Infant; Lysine; Mammals; Mice; Mice, Mutant Strains; Molecular Sequence Data; Ornithine; Ornithine-Oxo-Acid Transaminase; Phenotype; Polymerase Chain Reaction; Retina; Retinal Degeneration | 1995 |
Prenatal exclusion of the HHH syndrome.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Amniotic Fluid; Cells, Cultured; Citrulline; Female; Humans; Ornithine; Pregnancy; Prenatal Diagnosis; Syndrome | 1995 |
Gyrate atrophy of the choroid and retina with hyperornithinaemia, cystinuria and lysinuria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Cystinuria; Diabetes Mellitus, Type 1; Female; Fluorescein Angiography; Gyrate Atrophy; Humans; Hyperopia; Lysine; Ornithine; Ornithine-Oxo-Acid Transaminase | 1994 |
Lysinuric protein intolerance. Urinary amino acid excretion at 2 and 9 days of age.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Citrulline; Humans; Infant, Newborn; Lysine; Male; Ornithine | 1994 |
Abnormal pulmonary macrophages in lysinuric protein intolerance. Ultrastructural, morphometric, and x-ray microanalytic study.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Bronchoalveolar Lavage Fluid; Electron Probe Microanalysis; Humans; Lung; Lysine; Macrophages, Alveolar; Middle Aged; Ornithine; Pulmonary Alveolar Proteinosis | 1994 |
Skeletal manifestations of lysinuric protein intolerance. A follow-up study of 29 patients.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Biological Transport; Bone and Bones; Bone Development; Child; Child, Preschool; Dietary Proteins; Female; Follow-Up Studies; Fractures, Bone; Humans; Lysine; Male; Middle Aged; Ornithine; Osteoporosis; Radiography | 1993 |
Necropsy findings in lysinuric protein intolerance.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Female; Follow-Up Studies; Glomerulonephritis, IGA; Humans; Liver Cirrhosis; Lysine; Ornithine | 1996 |
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH)-syndrome. Ultrastructural changes of mitochondria in cultured dermal fibroblasts of three patients.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Cells, Cultured; Child; Citrulline; Female; Fibroblasts; Humans; Male; Mitochondria; Ornithine; Skin; Syndrome | 1996 |
Lysinuric protein intolerance with thymic hypoplasia.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Female; Humans; Infant; Lysine; Ornithine; Thymus Gland | 1996 |
A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Binding Sites; Child, Preschool; Codon, Terminator; DNA Probes; Exons; Female; Humans; Mutation; Ornithine; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid | 1996 |
Ciliated cultured dermal fibroblasts in a patient with hyperornithinemia, hyperammonemia and homocitrullinuria (HHH) syndrome.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Cells, Cultured; Cilia; Citrulline; Endoplasmic Reticulum, Rough; Fibroblasts; Humans; Microscopy, Electron; Mitochondria; Ornithine; Skin; Syndrome; Urea | 1995 |
Gestational age-related reference values for amniotic fluid amino acids: a useful tool for prenatal diagnosis of aminoacidopathies.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Amniotic Fluid; Argininosuccinic Acid; Chromatography, Ion Exchange; Citrulline; Female; Gestational Age; Humans; Ornithine; Oxidoreductases Acting on Sulfur Group Donors; Pregnancy; Prenatal Diagnosis; Reference Values; Vitamin B 12 | 1996 |
Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Chromosome Mapping; Chromosomes, Human, Pair 14; Confidence Intervals; Female; Finland; Genetic Markers; Humans; Linkage Disequilibrium; Lysine; Male; Microsatellite Repeats; Ornithine; Pedigree; Phenotype | 1997 |
Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Creatine; Creatinine; Guanidines; Guanidinoacetate N-Methyltransferase; Humans; Infant; Male; Methyltransferases; Movement Disorders; Ornithine; Time Factors | 1997 |
Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Benzoates; Benzoic Acid; Carnitine; Citrulline; Diet, Protein-Restricted; Humans; Infant, Newborn; Male; Ornithine | 1997 |
Intravenous immune globulin in lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child; Humans; Immunoglobulins, Intravenous; Lysine; Male; Ornithine | 1998 |
Varicella and varicella immunity in patients with lysinuric protein intolerance.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Chickenpox; Child; Child, Preschool; Humans; Infant; Lysine; Male; Ornithine | 1998 |
Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Bone Marrow Cells; Child; Child, Preschool; Diagnosis, Differential; Flow Cytometry; Histiocytosis, Non-Langerhans-Cell; Humans; Infant; Lymphocyte Subsets; Lysine; Ornithine | 1999 |
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Amino Acid Substitution; Amino Acid Transport Systems, Basic; Ammonia; Animals; Canada; Carrier Proteins; Chromosome Mapping; Chromosomes, Human, Pair 13; Citrulline; Female; France; Genetic Carrier Screening; Humans; Karyotyping; Male; Membrane Transport Proteins; Mice; Mitochondria; Mitochondrial Membrane Transport Proteins; Molecular Sequence Data; Neurospora crassa; Ornithine; Point Mutation; Saccharomyces cerevisiae; Sequence Alignment; Sequence Deletion; Sequence Homology, Amino Acid; Skin; Syndrome; Transfection | 1999 |
Reduced nitric oxide production by L-arginine deficiency in lysinuric protein intolerance exacerbates intravascular coagulation.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Antithrombin III; Arginine; Blood Coagulation Disorders; Citrulline; Cyclic GMP; Humans; Lysine; Male; Nitric Oxide; Nitroglycerin; Ornithine; Peptide Hydrolases; Platelet Aggregation; Thrombosis | 1999 |
Aberrations of ammonia metabolism in ornithine carbamoyltransferase-deficient spf-ash mice and their prevention by treatment with urea cycle intermediate amino acids and an ornithine aminotransferase inactivator.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Ammonium Chloride; Animals; Arginine; Citrulline; Enzyme Inhibitors; Injections, Intraperitoneal; Liver; Male; Mice; Mice, Transgenic; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Perfusion; Urea | 1999 |
Determination of urinary orotic acid and uracil by capillary zone electrophoresis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Borates; Buffers; Citrulline; Dietary Proteins; Electrophoresis, Capillary; Humans; Hydrogen-Ion Concentration; Infant; Male; Ornithine; Orotic Acid; Syndrome; Uracil | 1999 |
Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Ammonia; Asian People; Biological Transport; Carrier Proteins; Citrulline; DNA Mutational Analysis; Exons; Humans; Japan; Mitochondria; Molecular Sequence Data; Mutation; Ornithine; Reverse Transcriptase Polymerase Chain Reaction; Syndrome | 2000 |
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.
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 |
Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Carrier Proteins; Child; Codon, Nonsense; DNA Mutational Analysis; Female; Homozygote; Humans; Japan; Male; Membrane Transport Proteins; Middle Aged; Mitochondria; Ornithine; Point Mutation; Syndrome | 2001 |
Hyperornithinemia associated with gyrate atrophy of the choroid and retina in a child with myopia.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Consanguinity; Female; Gyrate Atrophy; Humans; India; Myopia; Ornithine; Ornithine-Oxo-Acid Transaminase | 2001 |
Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Creatine; Dietary Supplements; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Infant; Methyltransferases; Ornithine; Urea | 2001 |
Arginine therapy of argininosuccinase deficiency.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Erythrocytes; Female; Glutamine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Lyases; Ornithine; Quaternary Ammonium Compounds | 1979 |
[Chorio-retinal degenerations and aminoaciduria. III. Atrophia gyrata].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Humans; Male; Ornithine; Pedigree; Retinal Degeneration | 1975 |
Hyperornithinemia, hyperammonemia, and homocitrullinuria associated with decreased carbamyl phosphate synthetase I activity.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Biopsy; Carbamoyl-Phosphate Synthase (Ammonia); Child; Child, Preschool; Citrulline; Dietary Proteins; Female; Humans; Leukocytes; Liver; Lysine; Male; Microscopy, Electron; Mitochondria, Liver; Ornithine; Phosphotransferases | 1975 |
Proceedings: Hepatic ultrastructure in a child with carbamyl phosphate synthetase deficiency, hyperornithinaemia, hyperammonaemia, and homocitrullinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Child; Citrulline; Humans; Liver; Male; Ornithine; Phosphotransferases | 1975 |
Metabolic studies in two families with hyperornithinemia and gyrate atrophy of choroid and retina.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Atrophy; Child; Child, Preschool; Choroid; Female; Glutamates; Humans; Lysine; Male; Middle Aged; Ornithine; Proline; Retina | 1979 |
Hydroxyproline metabolism in type II hyperprolinaemia.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Glycine; Humans; Hydroxyproline; Male; Metabolic Clearance Rate; Ornithine; Proline; Pyrroles | 1979 |
[Cystine-lysine-ornithine-argininuria. Current genetic and clinico-therapeutic problems].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Arginine; Child; Child, Preschool; Cystinuria; Humans; Kidney Calculi; Lysine; Male; Ornithine; Tiopronin | 1979 |
Gyrate atrophy of the choroid and retina.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Follow-Up Studies; Heterozygote; Homozygote; Humans; Ornithine; Pedigree; Retinal Degeneration | 1979 |
Gyrate atrophy of the choroid and retina with hyperornithinemia: tubular aggregates and type 2 fiber atrophy in muscle.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Humans; Male; Middle Aged; Muscles; Muscular Atrophy; Ornithine; Retinal Diseases; Uveal Diseases | 1979 |
Attempted dietary treatment of a boy with hyperammonemia due to ornithine transferase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Child, Preschool; Citrates; Dietary Proteins; Humans; Lactulose; Male; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease | 1978 |
3-Aminopiperid-2-one, an unusual metabolite in the urine of a patient with hyperammonaemia, hyperornithinaemia and homocitrullinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Chromatography, Gas; Chromatography, Ion Exchange; Citrulline; Electrophoresis; Humans; Mass Spectrometry; Ornithine; Piperidines; Piperidones | 1978 |
3-Amino-2-piperidone in the urine of patients with hyperornithinemia.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Ion Exchange; Chromatography, Paper; Chromatography, Thin Layer; Electrophoresis; Female; Humans; Infant; Ornithine; Piperidines; Piperidones | 1978 |
Amino acid transport properties of erythrocytes from normal newborn lambs and lambs with an inherited defect in amino acid transport.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Animals, Newborn; Arginase; Arginine; Erythrocytes; Glutathione; Lysine; Ornithine; Phenylalanine; Sheep | 1978 |
Hyperornithinemia and gyrate atrophy of the choroid and retina.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Atrophy; Child; Choroid; Female; Glutamates; Humans; Male; Middle Aged; Mitochondria, Liver; Ornithine; Ornithine-Oxo-Acid Transaminase; Pedigree; Retinal Degeneration; Syndrome; Uveal Diseases | 1978 |
[Are there various forms of gyrate atrophy of the choroid and retina? (choroidal and retinal gyrate atrophy with and without ornithinemia)].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Atrophy; Choroid; Humans; Male; Ornithine; Pedigree; Retina; Retinal Diseases; Syndrome | 1978 |
The mechanism of hyperammonemia in congenital lysinuria.
Topics: Adolescent; Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Female; Humans; Lysine; Ornithine | 1979 |
Ornithine methyl ester. An unusual metabolite encountered in the urine of patients with a urea cycle disorder characterized by hyperammonemia, hyperornithinemia and homocitrullinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Chromatography; Citrulline; Dansyl Compounds; Humans; Ornithine | 1977 |
Lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Female; Humans; Infant; Lysine; Ornithine | 1977 |
Prolonged coma and isoelectric electroencephalogram in a child with lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child, Preschool; Coma; Dietary Proteins; Electroencephalography; Humans; Lysine; Male; Ornithine | 1977 |
Nitrogen metabolism in neonatal citrullinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Nitrogen; Ornithine; Urea | 1977 |
[Congenital hyperlysin-arginin-ornithinuria in a mentally retarded child (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Biological Transport, Active; Child, Preschool; Humans; Intellectual Disability; Kidney; Lysine; Male; Ornithine | 1977 |
Cerebrospinal fluid and plasma glutamine elevation by anticonvulsant drugs: a potential diagnostic and therapeutic trap.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Citrulline; Epilepsy; False Positive Reactions; Female; Glutamine; Humans; Infant; Male; Middle Aged; Ornithine; Phenobarbital; Primidone; Urea | 1976 |
Gyrate atrophy of the choroid and retina with hyperornithinemia HOGA.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Atrophy; Child; Choroid; Female; Humans; Male; Middle Aged; Ornithine; Retina; Retinal Diseases; Uveal Diseases | 1976 |
Congenital hyperammonemic syndromes.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; Diagnosis, Differential; Humans; Hyperargininemia; Infant, Newborn; Infant, Newborn, Diseases; Lysine; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Syndrome; Urea | 1976 |
Hyperammonemia (ornithinemia) presenting as a unilateral cerebral mass lesion.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Astrocytes; Brain Diseases; Brain Neoplasms; Carbamoyl-Phosphate Synthase (Ammonia); Cerebral Cortex; Child, Preschool; Diagnosis, Differential; Functional Laterality; Glioma; Humans; Male; Ornithine; Syndrome | 1976 |
Hyperdibasicaminoaciduria and hyperammonemia in familial protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Diamino; Ammonia; Arginine; Child, Preschool; Cystinuria; Humans; Intestinal Absorption; Intestinal Mucosa; Lysine; Male; Ornithine; Renal Aminoacidurias | 1976 |
Diamino acid transport into granulocytes and liver slices of patients with lysinuric protein intolerance.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Diamino; Arginine; Biopsy; Child; Child, Preschool; Female; Granulocytes; Humans; Isotope Labeling; Kinetics; Leukocytes; Liver; Lysine; Male; Middle Aged; Ornithine | 1975 |
Lysinuric protein intolerance.
Topics: Adolescent; Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Birth Weight; Child; Child, Preschool; Dietary Proteins; Eye Diseases; Female; Humans; Infant; Intellectual Disability; Intestinal Absorption; Liver; Lysine; Male; Nitrogen; Ornithine; Proteins; Renal Aminoacidurias; Urea | 1975 |
Gyrate atrophy of the choroid and retina: clinical, ophthalmologic, and biochemical considerations.
Topics: Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Atrophy; Cataract; Choroid; Histidine; Humans; Male; Muscles; Muscular Atrophy; Ornithine; Retinal Diseases; Retinal Vessels; Uveal Diseases; Visual Fields | 1975 |
[A case of hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome with spastic paraparesis and severe distal muscle atrophy of lower limbs].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Electromyography; Humans; Leg; Male; Muscular Atrophy; Ornithine; Paraparesis, Tropical Spastic; Spinal Cord; Syndrome | 1992 |
[The dibasic amino acid metabolic disorders].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Blood Transfusion; Citrulline; Humans; Hyperargininemia; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Renal Dialysis | 1992 |
[Vitamin B6 dependency syndrome].
Topics: Amino Acid Metabolism, Inborn Errors; Aspartate Aminotransferases; Cystathionine; Homocystinuria; Humans; Hyperoxaluria; Ornithine; Pyridoxal Phosphate; Pyridoxine | 1992 |
Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome: neurologic, ophthalmologic, and neuropsychologic examination of six patients.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Citrulline; Eye Diseases; Female; Humans; Male; Nervous System Diseases; Neuropsychological Tests; Ornithine; Psychomotor Performance | 1992 |
Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Cells, Cultured; Citrulline; Female; Gestational Age; Hepatitis B Surface Antigens; Humans; Hyaline Membrane Disease; Infant, Newborn; Male; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Ornithine-Oxo-Acid Transaminase; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Syndrome | 1992 |
Cerebellar ataxia with glutamic aciduria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Atrophy; Cerebellum; Cystinuria; Female; Glutamates; Glutamic Acid; Humans; Kidney Tubules; Lysine; Magnetic Resonance Imaging; Ornithine; Spinocerebellar Degenerations | 1991 |
Lysine transport in human kidney.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Biological Transport; Humans; Kidney Tubules; Lysine; Male; Ornithine | 1990 |
Abnormal urinary excretion of polyamines in HHH syndrome (hyperornithinemia associated with hyperammonemia and homocitrullinuria).
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Biogenic Polyamines; Citrulline; Diet; Humans; Male; Ornithine; Syndrome | 1990 |
Hyperammonemia caused by impaired mitochondrial ornithine transport in a patient with partial quantitative deficiency of ornithine carbamoyltransferase.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Humans; Liver; Male; Mitochondria, Liver; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease | 1990 |
Homocitrullinuria and homoargininuria in lysinuric protein intolerance.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Citrulline; Female; Homoarginine; Humans; Kidney; Lysine; Male; Ornithine | 1989 |
Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblasts.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Fibroblasts; Heterozygote; Homozygote; Humans; Lysine; Ornithine; Ornithine-Oxo-Acid Transaminase; Oxidation-Reduction; Proteins; Syndrome | 1989 |
Familial lysinuric protein intolerance presenting as coma in two adult siblings.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Coma; Family; Family Health; Humans; Male; Ornithine | 1989 |
Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Chorionic Villi Sampling; Citrulline; Female; Humans; Ornithine; Pregnancy; Pregnancy Trimester, First; Prenatal Diagnosis | 1989 |
A new patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria treated early with low protein diet.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Citrulline; Dietary Proteins; Glutamine; Humans; Infant; Male; Ornithine; Pyrimidines | 1986 |
A new family affected by the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Citrulline; Female; Humans; Male; Ornithine; Syndrome | 1987 |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child, Preschool; Citrulline; Creatine; Female; Humans; Lysine; Male; Ornithine; Orotic Acid; Syndrome | 1987 |
Abnormality of citrulline synthesis in liver mitochondria from patients with hyperornithinaemia, hyperammonaemia and homocitrullinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Humans; Kinetics; Mitochondria, Liver; Ornithine | 1987 |
Increased urinary excretion of putrescine in hyperargininaemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Citrulline; Cystinuria; Humans; Male; Ornithine; Putrescine | 1987 |
Biochemical analysis of decreased ornithine transport activity in the liver mitochondria from patients with hyperornithinemia, hyperammonemia and homocitrullinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Biological Transport; Citrulline; Humans; Kinetics; Mitochondria, Liver; Ornithine | 1988 |
Clinical, biochemical and ultrastructural study on the pathogenesis of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Brain; Child; Citrulline; Endoplasmic Reticulum; Humans; Liver Glycogen; Male; Mitochondria, Liver; Ornithine; Tomography, X-Ray Computed | 1988 |
Enzyme replacement therapy in a patient with hyperargininemia.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Blood Transfusion; Child, Preschool; Humans; Hyperargininemia; Male; Ornithine | 1987 |
[Hyperornithinemia, hyperammonemia and homocitrullinuria syndrome in a family].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Electroencephalography; Humans; Male; Mitochondria; Ornithine; Syndrome | 1987 |
The hyperornithinemia, hyperammonemia, homocitrullinuria syndrome: an ornithine transport defect remediable with ornithine supplements.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Citrulline; Dietary Proteins; Fibroblasts; Humans; In Vitro Techniques; Male; Mitochondria; Ornithine; Oxidation-Reduction; Syndrome | 1987 |
Hyperornithinemia, hyperammonemia, and homocitrullinuria: case report and biochemical study.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Citrulline; Fibroblasts; Humans; Liver; Male; Ornithine; Reference Values; Skin | 1987 |
Gyrate atrophy of the choroid and retina. The ocular disease progresses in juvenile patients despite normal or near normal plasma ornithine concentration.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Atrophy; Child; Choroid; Fluorescein Angiography; Follow-Up Studies; Fundus Oculi; Humans; Ornithine; Ornithine-Oxo-Acid Transaminase; Retina; Transaminases; Visual Acuity | 1987 |
Studies on a case of HHH-syndrome (hyperammonemia, hyperornithinemia, homocitrullinuria).
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Biological Transport; Child, Preschool; Citrulline; Fibroblasts; Follow-Up Studies; Humans; Kinetics; Male; Ornithine; Psychomotor Disorders; Seizures; Syndrome | 1986 |
Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Child; Citrulline; Cytoplasm; Humans; Male; Ornithine; Orotic Acid; Syndrome | 1985 |
Presence of ornithine in the urate-binding alpha-alpha2 globulin.
Topics: Alpha-Globulins; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginase; Blood Protein Electrophoresis; Gout; Humans; Ornithine; Protein Binding; Protein Hydrolysates; Uric Acid | 1971 |
Raised plasma-ornithine and gyrate atrophy of the choroid and retina.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Aqueous Humor; Atrophy; Child; Choroid; Electroretinography; Eye Diseases; Female; Fundus Oculi; Humans; Male; Middle Aged; Ornithine; Retina; Retinal Degeneration; Syndrome; Transaminases | 1973 |
Letter: Metabolic defect in hyperornithinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Carboxy-Lyases; Child, Preschool; Fibroblasts; Humans; Male; Ornithine; Skin | 1974 |
Hyperdibasicaminoaciduria in a mentally retarded homozygote with a peculiar response to phenothiazines.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Antipsychotic Agents; Arginine; Chlorpromazine; Cystinuria; Female; Fluphenazine; Humans; Intellectual Disability; Intestinal Absorption; Kidney Tubules; Lysine; Movement Disorders; Ornithine; Pedigree; Renal Aminoacidurias; Thioridazine; Trihexyphenidyl | 1973 |
Type 2 hyperprolinemia: absence of delta1-pyrroline-5-carboxylic acid dehydrogenase activity.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Carbon Radioisotopes; Carboxylic Acids; Child, Preschool; Female; Fibroblasts; Glutamates; Humans; Male; NAD; Ornithine; Oxidoreductases; Proline; Pyrroles | 1974 |
Argininosuccinicaciduria: clinical, metabolic and dietary study.
Topics: Affective Symptoms; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginase; Arginine; Ataxia; Child; Citrulline; Dietary Proteins; Electroencephalography; Epilepsy; Female; Humans; Intellectual Disability; Intelligence Tests; Male; Ornithine; Phenobarbital; Seizures; Succinates; Tremor | 1974 |
Psychomotor retardation, epileptic and stuporous attacks, irritability and ataxia associated with ammonia intoxication, high blood ornithine levels and increased homocitruline in the urine.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Ataxia; Citrulline; Epilepsy; Female; Humans; Ornithine; Paralysis; Psychomotor Disorders | 1973 |
Hyperlysinaemia. Harmless inborn error of metabolism?
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Body Height; Carbon Isotopes; Child; Citrulline; Cystine; Fibroblasts; Humans; Ketone Oxidoreductases; Lysine; Male; Ornithine | 1973 |
Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Dietary Proteins; Female; Humans; Intellectual Disability; Lysine; Mitochondria; Ornithine; Ornithine Carbamoyltransferase; Proline; Transaminases | 1974 |
Editorial: A new inborn error of metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Eye Diseases; Eye Manifestations; Humans; Metabolism, Inborn Errors; Ornithine; Sex Chromosomes | 1974 |
Gyrate atrophy of the choroid and retina associated with hyperornithinaemia.
Topics: Adolescent; Adult; Age Factors; Amino Acid Metabolism, Inborn Errors; Amino Acids; Aqueous Humor; Atrophy; Child; Choroid; Electroencephalography; Electrooculography; Eye; Eye Diseases; Female; Fluorescein Angiography; Hearing Tests; Humans; Intelligence Tests; Male; Middle Aged; Ornithine; Retinal Diseases; Sex Factors | 1974 |
Defective metabolic clearance of plasma arginine and ornithine in lysinuric protein intolerance.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Cystine; Cystinuria; Fasting; Female; Humans; Infant; Infusions, Parenteral; Kidney Diseases; Liver Diseases; Lysine; Male; Metabolic Clearance Rate; Ornithine; Proteinuria; Renal Tubular Transport, Inborn Errors; Urea | 1974 |
Heterogenous mutations of the structural gene of human ornithine carbamyltransferase as observed in five personal cases.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamates; Female; Genes; Humans; Hydrogen-Ion Concentration; Intestines; Kinetics; Liver; Male; Mutation; Ornithine; Ornithine Carbamoyltransferase; Sex Chromosomes | 1974 |
[Combined cystinuria-lysinuria in 2 brothers with mental retardation and morphologic and neurologic anomalies].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Child; Cystinuria; Female; Humans; Infant; Intellectual Disability; Lysine; Male; Middle Aged; Ornithine | 1968 |
The effect of a single oral dose of lysine or arginine on the excretion of free amino acids by the starved laying hen.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Arginine; Chickens; Female; Glycine; Histidine; Isoleucine; Lysine; Ornithine; Serine; Starvation; Time Factors; Tyrosine | 1972 |
Hyperammonemia due to a defect in hepatic ornithine transcarbamylase.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Central Nervous System Diseases; Child; Child Behavior Disorders; Citrates; Coma; Diet Therapy; Dietary Proteins; Female; Gastrointestinal Diseases; Guanidines; Humans; Liver; Male; Ornithine; Ornithine Carbamoyltransferase; Orotic Acid; Succinates; Urea | 1972 |
Amino acid, creatine and creatinine studies in myotonic dystrophy.
Topics: Adult; Age Factors; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Creatine; Creatinine; Erythrocytes; Female; Glutamine; Glycine; Hemolysis; Humans; Male; Membranes; Middle Aged; Myotonic Dystrophy; Ornithine; Permeability; Serine; Threonine | 1972 |
The congenital hyperammonemic syndrome.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Diet Therapy; Dietary Proteins; Female; Humans; Infant; Keto Acids; Ornithine; Ornithine Carbamoyltransferase; Phosphotransferases; Urea; Uric Acid | 1971 |
Comparison of amino acid concentrations between plasma and erythrocytes. Studies in normal human subjects and those with metabolic disorders.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Aspartic Acid; Biological Transport; Child; Chromatography, Ion Exchange; Cystine; Erythrocytes; Glutamates; Glutathione; Glycine; Histidine; Homocystine; Homocystinuria; Humans; Infant; Maple Syrup Urine Disease; Methionine; Ornithine; Phenylketonurias; Plasma; Renal Tubular Transport, Inborn Errors; Serine; Spectrophotometry; Threonine; Tyrosine | 1971 |
[Ornithinemia, a newly recognized amino acid metabolism disorder with brain damage].
Topics: Amino Acid Metabolism, Inborn Errors; Brain Damage, Chronic; Child; Child, Preschool; Female; Humans; Ornithine | 1969 |
Ornithine-ketoacid transaminase activity in human skin and amniotic fluid cell culture.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Amniotic Fluid; Biopsy; Cell Line; Citrulline; Culture Techniques; Humans; Keto Acids; Ornithine; Skin; Transaminases | 1970 |
Congenital lysinuria: a new inherited transport disorder of dibasic amino acids.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Biological Transport; Child; Chromatography, Thin Layer; Consanguinity; Cystine; Cystinuria; Diarrhea; Female; Growth; Humans; Intellectual Disability; Lysine; Malabsorption Syndromes; Ornithine; Renal Aminoacidurias; Vomiting | 1970 |
Amino acid excretion patterns in the offspring of a 'doubly-heterozygous' cystine stone former.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Child; Child, Preschool; Chromatography, Paper; Cysteine; Cystinosis; Cystinuria; Female; Ferrocyanides; Heterozygote; Homocysteine; Humans; Lysine; Molecular Biology; Ornithine | 1970 |
[Biochemical studies on inherited disorders of amino acid metabolism in pediatrics].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Chemistry, Clinical; Child; Child, Preschool; Chromatography, Paper; Cystine; Cystinosis; Cystinuria; Electrophoresis; Fanconi Syndrome; Feces; Histidine; Humans; Keto Acids; Lysine; Maple Syrup Urine Disease; Ornithine; Phenylketonurias | 1970 |
[Isolated cystinuria (without lysin-, ornithinand argininuria) in a family with hypocalcemic tetany].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Chromatography; Cystinuria; Female; Humans; Hypocalcemia; Hypoparathyroidism; Lysine; Male; Ornithine; Parathyroid Glands; Parathyroid Hormone; Pedigree; Phosphates; Tetany; Tissue Extracts; Vitamin D | 1967 |
[Generalized hyperaminoaciduria with hereditary rickets in pigs].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Hypophosphatemia, Familial; Nitrogen; Ornithine; Rickets; Swine; Swine Diseases; Urea; Vitamin D | 1967 |
Hyperdibasicaminoaciduria: an inherited disorder of amino acid transport.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Biological Transport; Cell Membrane Permeability; Child, Preschool; Cystine; Female; Genes, Dominant; Heterozygote; Humans; Intestinal Absorption; Kidney Function Tests; Lysine; Male; Ornithine | 1968 |
Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Ataxia; Child, Preschool; Citrulline; Diet Therapy; Humans; Intellectual Disability; Lysine; Male; Myoclonus; Ornithine; Ornithine Carbamoyltransferase; Seizures | 1969 |
Ornithinaemia. Another disorder of aminoacid metabolism associated with brain damage.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Brain Diseases; Child; Child, Preschool; Female; Humans; Male; Ornithine; Transaminases | 1969 |
Ornithine-ketoacid aminotransferase in human liver with reference to patients with hyperornithinaemia and familial protein intolerance.
Topics: Adult; Aged; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Fetus; Humans; Infant; Infant, Newborn; Keto Acids; Kinetics; Liver; Metabolism, Inborn Errors; Middle Aged; Ornithine; Ornithine Carbamoyltransferase; Pregnancy; Proteins; Transaminases | 1969 |
Renal excretion of cystathionine in dogs.
Topics: Absorption; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Chromatography, Ion Exchange; Dogs; Glomerular Filtration Rate; Glucose; Humans; Kidney; Kidney Tubules; Liver; Lysine; Muscles; Ornithine; Renal Artery; Tritium | 1969 |
[Cystinuria in children in the light of our observations].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Child, Preschool; Cystinuria; Female; Humans; Lysine; Male; Ornithine | 1966 |