alpha-hydroxyglutarate has been researched along with Metabolism, Inborn Errors 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.
Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
| Excerpt | Relevance | Reference |
|---|---|---|
| "The older sister presented with severe mental retardation, recurrent epileptic seizures, and progressive deterioration in her ability to walk and to talk; she is now confined to a wheelchair with severe speech deficit." | 1.33 | L-2-Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters. ( Duprez, TP; Goffette, SM; Jakobs, C; Nassogne, MC; Sindic, CJ; Vincent, MF, 2006) |
| "The phenotype appears to include mental retardation, macrocephaly, hypotonia, seizures, and involuntary movements, although neurologic and systemic manifestations of the disorder varied considerably between individual patients, even within the same family." | 1.29 | D-2-hydroxyglutaric aciduria. ( Bowe, C; Curry, CJ; Duran, M; Holmes, B; Jakobs, C; Nyhan, WL; Shelton, GD; Sweetman, L; Vance, C, 1995) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (7.14) | 18.7374 |
| 1990's | 10 (35.71) | 18.2507 |
| 2000's | 12 (42.86) | 29.6817 |
| 2010's | 4 (14.29) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Van Schaftingen, E | 3 |
| Saidha, S | 1 |
| Murphy, S | 1 |
| McCarthy, P | 1 |
| Mayne, PD | 1 |
| Hennessy, M | 1 |
| Smeitink, J | 1 |
| Coşkun, T | 1 |
| Bhagwat, N | 1 |
| Levine, RL | 1 |
| Das, AM | 1 |
| Owens, WE | 1 |
| Okun, MS | 1 |
| Rzem, R | 2 |
| Veiga-da-Cunha, M | 2 |
| Goffette, SM | 1 |
| Duprez, TP | 1 |
| Nassogne, MC | 1 |
| Vincent, MF | 2 |
| Jakobs, C | 7 |
| Sindic, CJ | 1 |
| Lee, C | 1 |
| Born, M | 1 |
| Salomons, GS | 1 |
| Woelfle, J | 1 |
| Juul, K | 1 |
| Andersen, J | 1 |
| Basile Cvitanich, V | 1 |
| Meldgaard Lund, A | 1 |
| Struys, EA | 1 |
| Gibson, KM | 2 |
| Brunengraber, H | 1 |
| Duran, M | 3 |
| Kamerling, JP | 1 |
| Bakker, HD | 1 |
| van Gennip, AH | 1 |
| Wadman, SK | 1 |
| Hoffmann, GF | 3 |
| Holmes, B | 2 |
| Mitchell, L | 1 |
| Becker, G | 1 |
| Hartung, HP | 1 |
| Nyhan, WL | 2 |
| Shelton, GD | 1 |
| Bowe, C | 1 |
| Curry, CJ | 1 |
| Vance, C | 1 |
| Sweetman, L | 1 |
| Larnaout, A | 1 |
| Hentati, F | 1 |
| Belal, S | 1 |
| Ben Hamida, C | 1 |
| Kaabachi, N | 1 |
| Ben Hamida, M | 1 |
| Hanefeld, F | 1 |
| Kruse, B | 1 |
| Bruhn, H | 1 |
| Frahm, J | 1 |
| ten Brink, HJ | 1 |
| Schor, DS | 1 |
| Kok, RM | 1 |
| Bootsma, AH | 1 |
| Barbot, C | 1 |
| Fineza, I | 1 |
| Diogo, L | 1 |
| Maia, M | 1 |
| Melo, J | 1 |
| Guimarães, A | 1 |
| Pires, MM | 1 |
| Cardoso, ML | 1 |
| Vilarinho, L | 1 |
| Takayanagi, M | 1 |
| Ogawa, A | 1 |
| Kaunzinger, A | 1 |
| Rechner, A | 1 |
| Beck, T | 1 |
| Mosandl, A | 1 |
| Sewell, AC | 1 |
| Böhles, H | 1 |
| Fujitake, J | 1 |
| Ishikawa, Y | 1 |
| Fujii, H | 1 |
| Nishimura, K | 1 |
| Hayakawa, K | 1 |
| Inoue, F | 1 |
| Terada, N | 1 |
| Okochi, M | 1 |
| Tatsuoka, Y | 1 |
| van der Knaap, MS | 1 |
| Muntau, AC | 1 |
| Schweitzer, S | 1 |
| Kelley, RI | 1 |
| Parrot-Roulaud, F | 1 |
| Amiel, J | 1 |
| De Lonlay, P | 1 |
| Rabier, D | 1 |
| Eeg-Olofsson, O | 1 |
| Talkhani, IS | 1 |
| Saklatvala, J | 1 |
| Dwyer, J | 1 |
| Bal, D | 1 |
| Gradowska, W | 1 |
| Gryff-Keller, A | 1 |
| Verhaeghe, BJ | 1 |
| Lefevere, MF | 1 |
| De Leenheer, AP | 1 |
2 reviews available for alpha-hydroxyglutarate and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Regulation of the mitochondrial ATP-synthase in health and disease.
Topics: Animals; Brain; Brain Diseases, Metabolic, Inborn; Cells, Cultured; Chickens; Disease; Disease Model | 2003 |
[D-2-hydroxyglutaric aciduria].
Topics: Biomarkers; Cardiomyopathy, Dilated; Central Nervous System Diseases; Diagnosis, Differential; gamma | 1998 |
26 other studies available for alpha-hydroxyglutarate and Metabolism, Inborn Errors
| Article | Year |
|---|---|
[L-2-hydroxyglutaric aciduria, an error of metabolism].
Topics: Alcohol Oxidoreductases; Glutarates; Humans; Ketoglutaric Acids; Metabolism, Inborn Errors; Mitochon | 2007 |
L-2-hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration.
Topics: Adult; Ataxia; Brain; Disease Progression; Epilepsy; Glutarates; Humans; Lysine; Male; Metabolism, I | 2010 |
Metabolism, gliomas, and IDH1.
Topics: Brain Neoplasms; Genetic Markers; Glioma; Glutarates; Humans; Isocitrate Dehydrogenase; Isocitrates; | 2010 |
L-2-hydroxyglutaric aciduria and brain tumors.
Topics: Alcohol Oxidoreductases; Brain Neoplasms; Glutarates; Humans; Metabolism, Inborn Errors; Multiple Ac | 2010 |
Metabolic syndromes and malignant transformation: where the twain shall meet.
Topics: Cell Transformation, Neoplastic; Glioma; Glutarates; Humans; Isocitrate Dehydrogenase; Leukemia, Mye | 2010 |
Dystonia, tremor, and parkinsonism in a 54 year old man with 2-hydroxyglutaric aciduria.
Topics: Brain; Diagnosis, Differential; Dystonia; Glutarates; Humans; Magnetic Resonance Imaging; Male; Meta | 2004 |
The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase.
Topics: Alcohol Oxidoreductases; Blotting, Western; Cells, Cultured; Central Nervous System Diseases; Chromo | 2006 |
L-2-Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters.
Topics: Adult; Age of Onset; Brain; Electromyography; Epilepsy; Female; Glutarates; Humans; Intellectual Dis | 2006 |
Hemiconvulsion-hemiplegia-epilepsy syndrome as a presenting feature of L-2-hydroxyglutaric aciduria.
Topics: Epilepsy; Female; Glutarates; Hemiplegia; Humans; Infant; Metabolism, Inborn Errors; Syndrome | 2006 |
Case 2: Suspected non-accidental injury.
Topics: Child Abuse; Female; Glutarates; Hemorrhage; Humans; Infant; Metabolism, Inborn Errors; Retinal Hemo | 2006 |
L-2-hydroxyglutaric aciduria, a defect of metabolite repair.
Topics: Alcohol Oxidoreductases; Animals; Cell Line; Cytosol; Glutarates; Humans; In Vitro Techniques; Ketog | 2007 |
Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid.
Topics: Alcohol Oxidoreductases; Carbon Isotopes; Cell Line; Citric Acid; Deuterium; Gas Chromatography-Mass | 2007 |
Alpha-ketoglutarate is the precursor of L-2-hydroxyglutarate.
Topics: Alcohol Oxidoreductases; Animals; Cytosol; Glutarates; Humans; Ketoglutaric Acids; Kinetics; Liver; | 2007 |
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?
Topics: Child, Preschool; Glutarates; Humans; Hydroxy Acids; Ketoglutaric Acids; Male; Metabolism, Inborn Er | 1980 |
Organic acids in cerebrospinal fluid and plasma of patients with L-2-hydroxyglutaric aciduria.
Topics: Brain Diseases, Metabolic; Carboxylic Acids; Glutarates; Humans; Metabolism, Inborn Errors | 1995 |
D-2-hydroxyglutaric aciduria.
Topics: Animals; Biopsy; Brain Diseases, Metabolic; Child; Child, Preschool; Dog Diseases; Dogs; Female; Gas | 1995 |
Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduria.
Topics: Adolescent; Adult; Central Nervous System; Glutarates; Humans; Male; Metabolism, Inborn Errors; Tuni | 1994 |
In vivo proton magnetic resonance spectroscopy of the brain in a patient with L-2-hydroxyglutaric acidemia.
Topics: Adolescent; Aspartic Acid; Biomarkers; Brain; Female; Glutarates; Humans; Inositol; Magnetic Resonan | 1994 |
Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias.
Topics: Acyl-CoA Dehydrogenase; Adult; Body Fluids; Child; Deuterium; Fatty Acid Desaturases; Female; Fetal | 1993 |
L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients.
Topics: Adolescent; Ataxia; Biopsy; Brain; Child; Child, Preschool; Female; Glutarates; Humans; Intellectual | 1997 |
Chiral compounds as indicators of inherited metabolic disease. Simultaneous stereodifferentiation of lactic-, 2-hydroxyglutaric- and glyceric acid by enantioselective cGC.
Topics: Animals; Child, Preschool; Dog Diseases; Dogs; Female; Gas Chromatography-Mass Spectrometry; Glutara | 1996 |
L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family.
Topics: Brain; Female; Glutarates; Humans; Japan; Magnetic Resonance Imaging; Metabolism, Inborn Errors; Mid | 1999 |
D-2-hydroxyglutaric aciduria: further clinical delineation.
Topics: Brain; Glutarates; Humans; Magnetic Resonance Imaging; Metabolism, Inborn Errors | 1999 |
D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis.
Topics: Bone Diseases, Developmental; Child, Preschool; Enchondromatosis; Epiphyses, Slipped; Female; Glutar | 2000 |
Determination of the absolute configuration of 2-hydroxyglutaric acid and 5-oxoproline in urine samples by high-resolution NMR spectroscopy in the presence of chiral lanthanide complexes.
Topics: Glutarates; Humans; Indicators and Reagents; Lanthanoid Series Elements; Magnetic Resonance Spectros | 2002 |
Solid-phase extraction with strong anion-exchange columns for selective isolation and concentration of urinary organic acids.
Topics: Acetates; Acetic Acid; Adult; Barium; Barium Compounds; Carboxylic Acids; Child; Chromatography, Gas | 1988 |