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alpha-hydroxyglutarate and Metabolism, Inborn Errors

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.

Research Excerpts

ExcerptRelevanceReference
"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."1.33L-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."1.29D-2-hydroxyglutaric aciduria. ( Bowe, C; Curry, CJ; Duran, M; Holmes, B; Jakobs, C; Nyhan, WL; Shelton, GD; Sweetman, L; Vance, C, 1995)

Research

Studies (28)

TimeframeStudies, this research(%)All Research%
pre-19902 (7.14)18.7374
1990's10 (35.71)18.2507
2000's12 (42.86)29.6817
2010's4 (14.29)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Van Schaftingen, E3
Saidha, S1
Murphy, S1
McCarthy, P1
Mayne, PD1
Hennessy, M1
Smeitink, J1
Coşkun, T1
Bhagwat, N1
Levine, RL1
Das, AM1
Owens, WE1
Okun, MS1
Rzem, R2
Veiga-da-Cunha, M2
Goffette, SM1
Duprez, TP1
Nassogne, MC1
Vincent, MF2
Jakobs, C7
Sindic, CJ1
Lee, C1
Born, M1
Salomons, GS1
Woelfle, J1
Juul, K1
Andersen, J1
Basile Cvitanich, V1
Meldgaard Lund, A1
Struys, EA1
Gibson, KM2
Brunengraber, H1
Duran, M3
Kamerling, JP1
Bakker, HD1
van Gennip, AH1
Wadman, SK1
Hoffmann, GF3
Holmes, B2
Mitchell, L1
Becker, G1
Hartung, HP1
Nyhan, WL2
Shelton, GD1
Bowe, C1
Curry, CJ1
Vance, C1
Sweetman, L1
Larnaout, A1
Hentati, F1
Belal, S1
Ben Hamida, C1
Kaabachi, N1
Ben Hamida, M1
Hanefeld, F1
Kruse, B1
Bruhn, H1
Frahm, J1
ten Brink, HJ1
Schor, DS1
Kok, RM1
Bootsma, AH1
Barbot, C1
Fineza, I1
Diogo, L1
Maia, M1
Melo, J1
Guimarães, A1
Pires, MM1
Cardoso, ML1
Vilarinho, L1
Takayanagi, M1
Ogawa, A1
Kaunzinger, A1
Rechner, A1
Beck, T1
Mosandl, A1
Sewell, AC1
Böhles, H1
Fujitake, J1
Ishikawa, Y1
Fujii, H1
Nishimura, K1
Hayakawa, K1
Inoue, F1
Terada, N1
Okochi, M1
Tatsuoka, Y1
van der Knaap, MS1
Muntau, AC1
Schweitzer, S1
Kelley, RI1
Parrot-Roulaud, F1
Amiel, J1
De Lonlay, P1
Rabier, D1
Eeg-Olofsson, O1
Talkhani, IS1
Saklatvala, J1
Dwyer, J1
Bal, D1
Gradowska, W1
Gryff-Keller, A1
Verhaeghe, BJ1
Lefevere, MF1
De Leenheer, AP1

Reviews

2 reviews available for alpha-hydroxyglutarate and Metabolism, Inborn Errors

ArticleYear
Regulation of the mitochondrial ATP-synthase in health and disease.
    Molecular genetics and metabolism, 2003, Volume: 79, Issue:2

    Topics: Animals; Brain; Brain Diseases, Metabolic, Inborn; Cells, Cultured; Chickens; Disease; Disease Model

2003
[D-2-hydroxyglutaric aciduria].
    Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1

    Topics: Biomarkers; Cardiomyopathy, Dilated; Central Nervous System Diseases; Diagnosis, Differential; gamma

1998

Other Studies

26 other studies available for alpha-hydroxyglutarate and Metabolism, Inborn Errors

ArticleYear
[L-2-hydroxyglutaric aciduria, an error of metabolism].
    Bulletin et memoires de l'Academie royale de medecine de Belgique, 2007, Volume: 162, Issue:10-12

    Topics: Alcohol Oxidoreductases; Glutarates; Humans; Ketoglutaric Acids; Metabolism, Inborn Errors; Mitochon

2007
L-2-hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration.
    Journal of neurology, 2010, Volume: 257, Issue:1

    Topics: Adult; Ataxia; Brain; Disease Progression; Epilepsy; Glutarates; Humans; Lysine; Male; Metabolism, I

2010
Metabolism, gliomas, and IDH1.
    The New England journal of medicine, 2010, Mar-25, Volume: 362, Issue:12

    Topics: Brain Neoplasms; Genetic Markers; Glioma; Glutarates; Humans; Isocitrate Dehydrogenase; Isocitrates;

2010
L-2-hydroxyglutaric aciduria and brain tumors.
    Journal of pediatric hematology/oncology, 2010, Volume: 32, Issue:4

    Topics: Alcohol Oxidoreductases; Brain Neoplasms; Glutarates; Humans; Metabolism, Inborn Errors; Multiple Ac

2010
Metabolic syndromes and malignant transformation: where the twain shall meet.
    Science translational medicine, 2010, Oct-20, Volume: 2, Issue:54

    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.
    Journal of neurology, neurosurgery, and psychiatry, 2004, Volume: 75, Issue:9

    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.
    Biochimie, 2006, Volume: 88, Issue:1

    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.
    European journal of neurology, 2006, Volume: 13, Issue:5

    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.
    Journal of child neurology, 2006, Volume: 21, Issue:6

    Topics: Epilepsy; Female; Glutarates; Hemiplegia; Humans; Infant; Metabolism, Inborn Errors; Syndrome

2006
Case 2: Suspected non-accidental injury.
    Acta paediatrica (Oslo, Norway : 1992), 2006, Volume: 95, Issue:10

    Topics: Child Abuse; Female; Glutarates; Hemorrhage; Humans; Infant; Metabolism, Inborn Errors; Retinal Hemo

2006
L-2-hydroxyglutaric aciduria, a defect of metabolite repair.
    Journal of inherited metabolic disease, 2007, Volume: 30, Issue:5

    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.
    Journal of inherited metabolic disease, 2007, Volume: 30, Issue:5

    Topics: Alcohol Oxidoreductases; Carbon Isotopes; Cell Line; Citric Acid; Deuterium; Gas Chromatography-Mass

2007
Alpha-ketoglutarate is the precursor of L-2-hydroxyglutarate.
    Journal of inherited metabolic disease, 2007, Volume: 30, Issue:5

    Topics: Alcohol Oxidoreductases; Animals; Cytosol; Glutarates; Humans; Ketoglutaric Acids; Kinetics; Liver;

2007
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?
    Journal of inherited metabolic disease, 1980, Volume: 3, Issue:4

    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.
    Journal of inherited metabolic disease, 1995, Volume: 18, Issue:2

    Topics: Brain Diseases, Metabolic; Carboxylic Acids; Glutarates; Humans; Metabolism, Inborn Errors

1995
D-2-hydroxyglutaric aciduria.
    Journal of child neurology, 1995, Volume: 10, Issue:2

    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.
    Acta neuropathologica, 1994, Volume: 88, Issue:4

    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.
    Pediatric research, 1994, Volume: 35, Issue:5

    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.
    Pediatric research, 1993, Volume: 34, Issue:3

    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.
    Brain & development, 1997, Volume: 19, Issue:4

    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.
    Enantiomer, 1996, Volume: 1, Issue:3

    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.
    Journal of neurology, 1999, Volume: 246, Issue:5

    Topics: Brain; Female; Glutarates; Humans; Japan; Magnetic Resonance Imaging; Metabolism, Inborn Errors; Mid

1999
D-2-hydroxyglutaric aciduria: further clinical delineation.
    Journal of inherited metabolic disease, 1999, Volume: 22, Issue:4

    Topics: Brain; Glutarates; Humans; Magnetic Resonance Imaging; Metabolism, Inborn Errors

1999
D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis.
    Skeletal radiology, 2000, Volume: 29, Issue:5

    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.
    Journal of pharmaceutical and biomedical analysis, 2002, Jun-15, Volume: 28, Issue:6

    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.
    Clinical chemistry, 1988, Volume: 34, Issue:6

    Topics: Acetates; Acetic Acid; Adult; Barium; Barium Compounds; Carboxylic Acids; Child; Chromatography, Gas

1988