alpha-hydroxyglutarate has been researched along with Deficiency, Mental in 9 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 |
|---|---|---|
| "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 | 0 (0.00) | 18.7374 |
| 1990's | 3 (33.33) | 18.2507 |
| 2000's | 6 (66.67) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Mahfoud, A | 1 |
| Domínguez, CL | 1 |
| Rashed, M | 1 |
| Durán, M | 2 |
| Rodríguez, T | 1 |
| Rodríguez, D | 1 |
| Landa, V | 1 |
| Seijo-Martínez, M | 1 |
| Navarro, C | 1 |
| Castro del Río, M | 1 |
| Vila, O | 1 |
| Puig, M | 1 |
| Ribes, A | 1 |
| Butron, M | 1 |
| Shafeghati, Y | 1 |
| Vakili, G | 1 |
| Entezari, A | 1 |
| Goffette, SM | 1 |
| Duprez, TP | 1 |
| Nassogne, MC | 1 |
| Vincent, MF | 1 |
| Jakobs, C | 3 |
| Sindic, CJ | 1 |
| Larnaout, A | 1 |
| Amouri, R | 1 |
| Neji, S | 1 |
| Zouari, M | 1 |
| Kaabachi, N | 1 |
| Hentati, F | 1 |
| Nyhan, WL | 1 |
| Shelton, GD | 1 |
| Holmes, B | 1 |
| Bowe, C | 1 |
| Curry, CJ | 1 |
| Vance, C | 1 |
| Sweetman, L | 1 |
| Gibson, KM | 1 |
| ten Brink, HJ | 1 |
| Schor, DS | 1 |
| Kok, RM | 1 |
| Bootsma, AH | 1 |
| Hoffmann, GF | 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 |
| Eeg-Olofsson, O | 1 |
| Zhang, WW | 1 |
| Olsson, Y | 1 |
| Jagell, S | 1 |
| Hagenfeldt, L | 1 |
9 other studies available for alpha-hydroxyglutarate and Deficiency, Mental
| Article | Year |
|---|---|
[D-2-hydroxyglutaric aciduria. Report of two cases].
Topics: Anticonvulsants; Atrophy; Brain; Brain Diseases, Metabolic, Inborn; Carnitine; Child, Preschool; Con | 2009 |
L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings.
Topics: Adolescent; Atrophy; Brain; Brain Diseases, Metabolic, Inborn; Epilepsy; Fatal Outcome; Folic Acid; | 2005 |
L-2-hydroxyglutaric aciduria: a report of six cases and review of the literature.
Topics: Adolescent; Brain Diseases, Metabolic, Inborn; Child, Preschool; Consanguinity; Dementia, Vascular; | 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 |
Osteoma of the calvaria in L-2-hydroxyglutaric aciduria.
Topics: Adult; Bone Neoplasms; Brain; Brain Diseases, Metabolic, Inborn; Creatinine; Dementia, Vascular; Glu | 2007 |
D-2-hydroxyglutaric aciduria.
Topics: Animals; Biopsy; Brain Diseases, Metabolic; Child; Child, Preschool; Dog Diseases; Dogs; Female; Gas | 1995 |
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 |
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 |