alpha-hydroxyglutarate has been researched along with Amino Acid Metabolism Disorders, Inborn in 28 studies
2-hydroxyglutarate : A dicarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of 2-hydroxyglutaric acid.
2-hydroxyglutaric acid : A 2-hydroxydicarboxylic acid that is glutaric acid in which one hydrogen alpha- to a carboxylic acid group is substituted by a hydroxy group.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Autism has not so far been described in L-2-HGA and may be considered as an additional feature of the phenotypic spectrum." | 1.35 | L-2-Hydroxyglutaric aciduria presenting with severe autistic features. ( Haas, D; Jakobs, C; Kontopoulos, E; Papadopoulou, V; Salomons, GS; Vargiami, E; Ververi, A; Zafeiriou, DI, 2008) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 12 (42.86) | 18.2507 |
| 2000's | 15 (53.57) | 29.6817 |
| 2010's | 1 (3.57) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Švidrnoch, M | 1 |
| Přibylka, A | 1 |
| Bekárek, V | 1 |
| Ševčík, J | 1 |
| Smolka, V | 1 |
| Maier, V | 1 |
| Haliloglu, G | 1 |
| Jobard, F | 1 |
| Oguz, KK | 1 |
| Anlar, B | 1 |
| Akalan, N | 1 |
| Coskun, T | 1 |
| Sass, JO | 1 |
| Fischer, J | 1 |
| Topcu, M | 1 |
| Van Schaftingen, E | 2 |
| Rzem, R | 1 |
| Veiga-da-Cunha, M | 1 |
| Wickenhagen, WV | 2 |
| Salomons, GS | 5 |
| Gibson, KM | 5 |
| Jakobs, C | 14 |
| Struys, EA | 6 |
| Steenweg, ME | 1 |
| Yapici, Z | 1 |
| Uziel, G | 1 |
| Scalais, E | 1 |
| Zafeiriou, DI | 2 |
| Ruiz-Falco, ML | 1 |
| Mejaski-Bosnjak, V | 1 |
| Augoustides-Savvopoulou, P | 1 |
| Wajner, M | 1 |
| Walter, J | 1 |
| Verhoeven-Duif, NM | 1 |
| van der Knaap, MS | 1 |
| Wang, X | 1 |
| Bawle, EV | 1 |
| Achouri, Y | 1 |
| Grosso, S | 1 |
| Craigen, WJ | 1 |
| Verhoeven, NM | 4 |
| Garosi, LS | 1 |
| Penderis, J | 2 |
| McConnell, JF | 1 |
| Ten Brink, HJ | 1 |
| Berthelot, J | 1 |
| Vianay-Saban, C | 1 |
| Chabrier, S | 1 |
| Thomas, JA | 1 |
| Tsai, AC | 1 |
| Calvin, J | 1 |
| Abramson, C | 1 |
| Pettitt, L | 1 |
| Binns, MM | 1 |
| O'Driscoll, E | 1 |
| Platt, SR | 1 |
| Mellersh, CS | 1 |
| Ververi, A | 1 |
| Vargiami, E | 1 |
| Haas, D | 1 |
| Papadopoulou, V | 1 |
| Kontopoulos, E | 1 |
| Wanders, RJ | 2 |
| Mooyer, P | 1 |
| Wilcken, B | 1 |
| Pitt, J | 1 |
| Heath, D | 1 |
| Walsh, P | 1 |
| Wilson, G | 1 |
| Buchanan, N | 1 |
| Divry, P | 2 |
| Vianey-Saban, C | 1 |
| Michelakakis, H | 1 |
| Papadimitriou, A | 1 |
| Divari, R | 1 |
| Chabrol, B | 1 |
| Cournelle, MA | 1 |
| Livet, MO | 1 |
| Craigen, W | 1 |
| Herman, GE | 1 |
| Barth, PG | 2 |
| Hoffmann, GF | 3 |
| Jaeken, J | 2 |
| Duran, M | 2 |
| Jansen, GA | 1 |
| Lehnert, W | 2 |
| Hanefeld, F | 2 |
| Valk, J | 2 |
| Zhao, G | 1 |
| Winkler, ME | 1 |
| Baker, NS | 1 |
| Sarnat, HB | 1 |
| Jack, RM | 1 |
| Patterson, K | 1 |
| Shaw, DW | 1 |
| Herndon, SP | 1 |
| Holmes, E | 1 |
| Foxall, PJ | 1 |
| Spraul, M | 1 |
| Farrant, RD | 1 |
| Nicholson, JK | 1 |
| Lindon, JC | 1 |
| Terada, N | 1 |
| Wagner, L | 1 |
| Amiel, J | 1 |
| de Lonlay, P | 1 |
| Francannet, C | 1 |
| Picard, A | 1 |
| Bruel, H | 1 |
| Rabier, D | 1 |
| Le Merrer, M | 1 |
| Verhoeven, N | 1 |
| Lyonnet, S | 1 |
| Munnich, A | 1 |
| Clerc, C | 1 |
| Bataillard, M | 1 |
| Richard, P | 1 |
| Kraehenbuhl, J | 1 |
| Rumbach, L | 1 |
| Eeg-Olofsson, O | 1 |
| Zhang, WW | 1 |
| Olsson, Y | 1 |
| Jagell, S | 1 |
| Hagenfeldt, L | 1 |
| Lee, JS | 1 |
| Yoon, HR | 1 |
| Coe, CJ | 1 |
| van Gennip, AH | 1 |
| Schutgens, RB | 1 |
| Trefz, FK | 1 |
4 reviews available for alpha-hydroxyglutarate and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair.
Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Flavin-Adenine Dinucleotide; Glutarat | 2009 |
D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect.
Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic, Inborn; Gl | 2006 |
[L-2-hydroxyglutaric aciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Cerebellar Ataxia; Diagnosis, Differential; Glutarates; | 1998 |
Facial anomalies in D-2-hydroxyglutaric aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Child; Craniofacial Abnormalities; Female; Glutarates; | 1999 |
24 other studies available for alpha-hydroxyglutarate and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Enantioseparation of d,l-2-hydroxyglutaric acid by capillary electrophoresis with tandem mass spectrometry-Fast and efficient tool for d- and l-2-hydroxyglutaracidurias diagnosis.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Creatinine; Electrophoresis, Capillary; Glutarat | 2016 |
L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings.
Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Brain Neoplasms; Child; Child, Presch | 2008 |
Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients.
Topics: Alcohol Oxidoreductases; Algorithms; Amino Acid Metabolism, Inborn Errors; Chromatography, High Pres | 2009 |
L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Glutarates | 2009 |
D-2-Hydroxyglutaric aciduria with absence of corpus callosum and neonatal intracranial haemorrhage.
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Amino Acid Metabolism, Inborn Errors; Corpus C | 2003 |
Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.
Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Gene Expres | 2005 |
L-2-hydroxyglutaric aciduria in a West Highland white terrier.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Diseases, Metabolic, Inborn; Dog Diseases; Dogs | 2005 |
Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias.
Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Fibroblasts; Gas Chr | 2005 |
D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?
Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Glutarates; | 2006 |
L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Base Pairing; Base Sequence; Bra | 2007 |
L-2-Hydroxyglutaric aciduria presenting with severe autistic features.
Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Autistic Disorder; Brain; Glutarates; | 2008 |
D-2-hydroxyglutaric acidaemia: identification of a new enzyme, D-2-hydroxyglutarate dehydrogenase, localized in mitochondria.
Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Animals; Brain Diseases, Metabolic; F | 1995 |
L-2-hydroxyglutaric aciduria: three Australian cases.
Topics: Amino Acid Metabolism, Inborn Errors; Australia; Child; Child, Preschool; Female; Glutarates; Humans | 1993 |
L-2-hydroxyglutaric aciduria: two further cases.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Gas Chromatography-Mass Spectrometry; Glutarates; Human | 1993 |
D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Female; Glutarates; Humans; Infant; Nervo | 1993 |
L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase.
Topics: Adolescent; Adult; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Brain; Child; Fema | 1993 |
A novel alpha-ketoglutarate reductase activity of the serA-encoded 3-phosphoglycerate dehydrogenase of Escherichia coli K-12 and its possible implications for human 2-hydroxyglutaric aciduria.
Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Carbohydrate Dehydrogenases; Enzyme I | 1996 |
D-2-hydroxyglutaric aciduria: hypotonia, cortical blindness, seizures, cardiomyopathy, and cylindrical spirals in skeletal muscle.
Topics: Amino Acid Metabolism, Inborn Errors; Blindness; Brain Diseases; Cardiomyopathies; Electroencephalog | 1997 |
750 MHz 1H NMR spectroscopy characterisation of the complex metabolic pattern of urine from patients with inborn errors of metabolism: 2-hydroxyglutaric aciduria and maple syrup urine disease.
Topics: Amino Acid Metabolism, Inborn Errors; Glutarates; Humans; Magnetic Resonance Spectroscopy; Maple Syr | 1997 |
D-2-hydroxyglutaric aciduria: evidence of clinical and biochemical heterogeneity.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Glutarates; Humans; Infant, Newborn; | 1998 |
An adult form of L-2-hydroxyglutaric aciduria revealed by tremor.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases, Metabolic, Inborn; Female; Gluta | 2000 |
D-2-hydroxyglutaric aciduria with cerebral, vascular, and muscular abnormalities in a 14-year-old boy.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Atrophy; Brain; Chromosome Aberrations; Chromosome | 2000 |
A Korean girl with alpha-aminoadipic and alpha-ketoadipic aciduria accompanied with elevation of 2-hydroxyglutarate and glutarate.
Topics: 2-Aminoadipic Acid; Adipates; Amino Acid Metabolism, Inborn Errors; Diet, Protein-Restricted; Female | 2001 |
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Female; Glutarates; Humans; Magnetic Resona | 1992 |