gamma-aminobutyric acid has been researched along with Inborn Errors of Metabolism in 25 studies
gamma-Aminobutyric Acid: The most common inhibitory neurotransmitter in the central nervous system.
gamma-aminobutyric acid : A gamma-amino acid that is butanoic acid with the amino substituent located at C-4.
| Excerpt | Relevance | Reference |
|---|---|---|
| " Here we discuss this disease concept in the context of our recent findings demonstrating that neural dysfunction arising from accumulation of the schizophrenia-associated metabolite l-proline is due to its structural mimicry of the neurotransmitter GABA that leads to alterations in GABA-ergic short-term synaptic plasticity." | 3.88 | Role of Endogenous Metabolite Alterations in Neuropsychiatric Disease. ( Crabtree, GW; Gogos, JA, 2018) |
| "Murine models of inborn errors of metabolism represent an established approach for investigating pathophysiological mechanisms associated with the corresponding human disorder." | 2.43 | Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype. ( Gibson, KM; Jakobs, C; Pearl, PL; Snead, OC, 2005) |
| "However, specific types of seizures, such as myoclonic seizures or distinctive electroencephalographic patterns, such as suppression burst patterns, epileptic syndrome or early myoclonic encephalopathy, may suggest a specific metabolic disease." | 2.43 | [Neonatal epilepsy and inborn errors of metabolism]. ( Bahi-Buisson, N; de Lonlay, P; Desguerre, I; Dulac, O; Kaminska, A; Léger, PL; Mention, K; Nabbout, R; Plouin, P; Valayanopoulos, V, 2006) |
| "Gamma-aminobutyric acid (GABA) is a major modulator in brain maturation and its role in many different neurodevelopmental disorders has been widely reported." | 1.48 | Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders. ( Armstrong-Morón, J; Artuch, R; Casado, M; Cortès-Saladelafont, E; Cuadras, D; García-Cazorla, À; Molero-Luis, M; Montoya, J; Yubero, D, 2018) |
| "His younger brother had mild axial hypotonia when 5 months old." | 1.36 | [Succinic semialdehyde dehydrogenase deficiency: decrease in 4-OH-butyric acid levels with low doses of vigabatrin]. ( Escalera, GI; Ferrer, I; Jakobs, C; Marina, LC; Pérez-Cerdá, C; Sala, PR; Salomons, GS, 2010) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 6 (24.00) | 18.7374 |
| 1990's | 9 (36.00) | 18.2507 |
| 2000's | 6 (24.00) | 29.6817 |
| 2010's | 4 (16.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Cortès-Saladelafont, E | 1 |
| Molero-Luis, M | 1 |
| Cuadras, D | 1 |
| Casado, M | 1 |
| Armstrong-Morón, J | 1 |
| Yubero, D | 1 |
| Montoya, J | 1 |
| Artuch, R | 1 |
| García-Cazorla, À | 1 |
| Crabtree, GW | 1 |
| Gogos, JA | 1 |
| Forni, S | 1 |
| Pearl, PL | 3 |
| Gibson, KM | 9 |
| Yu, Y | 1 |
| Sweetman, L | 2 |
| Escalera, GI | 1 |
| Ferrer, I | 1 |
| Marina, LC | 1 |
| Sala, PR | 1 |
| Salomons, GS | 2 |
| Jakobs, C | 10 |
| Pérez-Cerdá, C | 1 |
| Gupta, M | 1 |
| Tuchman, M | 1 |
| Vezina, LG | 1 |
| Snead, OC | 2 |
| Smit, LM | 1 |
| Zhao, XP | 1 |
| Liu, GS | 1 |
| Song, YZ | 1 |
| Philippe, A | 1 |
| Deron, J | 1 |
| Geneviève, D | 1 |
| de Lonlay, P | 2 |
| Rabier, D | 2 |
| Munnich, A | 1 |
| Bahi-Buisson, N | 1 |
| Mention, K | 1 |
| Léger, PL | 1 |
| Valayanopoulos, V | 1 |
| Nabbout, R | 1 |
| Kaminska, A | 1 |
| Plouin, P | 1 |
| Dulac, O | 1 |
| Desguerre, I | 1 |
| Knerr, I | 1 |
| Ganesh, J | 1 |
| Bennett, MJ | 1 |
| Myers, SM | 1 |
| Jaeken, J | 2 |
| Casaer, P | 2 |
| de Cock, P | 2 |
| Corbeel, L | 1 |
| Eeckels, R | 1 |
| Eggermont, E | 1 |
| Schechter, PJ | 1 |
| Brucher, JM | 1 |
| Rating, D | 3 |
| Hanefeld, F | 2 |
| Siemes, H | 1 |
| Kneer, J | 2 |
| Hermier, M | 2 |
| Divry, P | 3 |
| Jansen, I | 1 |
| Nyhan, WL | 1 |
| Ogier, H | 1 |
| Hagenfeldt, L | 1 |
| Eeg-Olofsson, KE | 1 |
| Eeg-Olofsson, O | 1 |
| Aksu, F | 2 |
| Weber, HP | 2 |
| Rossier, E | 2 |
| Vollmer, B | 2 |
| Uziel, G | 1 |
| Bardelli, P | 1 |
| Pantaleoni, C | 1 |
| Rimoldi, M | 1 |
| Savoiardo, M | 1 |
| Rahbeeni, Z | 1 |
| Ozand, PT | 1 |
| Rashed, M | 1 |
| Gascon, GG | 1 |
| al Nasser, M | 1 |
| al Odaib, A | 1 |
| Amoudi, M | 1 |
| Nester, M | 1 |
| al Garawi, S | 1 |
| Brismar, J | 1 |
| Christensen, E | 1 |
| Fowler, B | 1 |
| Clarke, MA | 1 |
| Hammersen, G | 1 |
| Raab, K | 1 |
| Kobori, J | 1 |
| Moosa, A | 1 |
| Iafolla, AK | 1 |
| Matern, D | 1 |
| Brouwer, OF | 1 |
| Finkelstein, J | 1 |
| Bakkeren, JA | 1 |
| Gabreels, FJ | 1 |
| Bluestone, D | 1 |
| Barron, TF | 1 |
| Beauvais, P | 1 |
| Santos, C | 1 |
| Lehnert, W | 1 |
| Hoffmann, GF | 2 |
| Hodson, AK | 1 |
| Bottiglieri, T | 1 |
| Takayanagi, M | 1 |
| Ogawa, A | 1 |
| Surtees, RA | 1 |
| Wevers, RA | 1 |
| Rite Gracia, S | 1 |
| Guallarte Alias, MP | 1 |
| Martínez Moral, M | 1 |
| Baldellou Vázquez, A | 1 |
| Rite Montañés, S | 1 |
| Ruiz-Echarri Zalaya, MP | 1 |
| Marco Tello, A | 1 |
| Rebage Moisés, V | 1 |
| Gjessing, LR | 1 |
| Lunde, HA | 1 |
| Mørkrid, L | 1 |
| Lenney, JF | 1 |
| Sjaastad, O | 1 |
| Francois, B | 1 |
| Yamaguchi, S | 1 |
| Orii, T | 1 |
| Yasuda, K | 1 |
| Kohno, Y | 1 |
5 reviews available for gamma-aminobutyric acid and Inborn Errors of Metabolism
| Article | Year |
|---|---|
Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype.
Topics: Animals; Disease Models, Animal; Epilepsy, Absence; gamma-Aminobutyric Acid; Humans; Metabolism, Inb | 2005 |
[Neonatal epilepsy and inborn errors of metabolism].
Topics: Age Factors; Anticonvulsants; Biotin; Brain; Electroencephalography; Epilepsies, Myoclonic; Epilepsy | 2006 |
4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism.
Topics: Aldehyde Oxidoreductases; Animals; Anticonvulsants; Child; Developmental Disabilities; Disease Model | 1998 |
[D-2-hydroxyglutaric aciduria].
Topics: Biomarkers; Cardiomyopathy, Dilated; Central Nervous System Diseases; Diagnosis, Differential; gamma | 1998 |
Cerebrospinal fluid investigations for neurometabolic disorders.
Topics: Adolescent; Biogenic Monoamines; Biomarkers; Brain Diseases, Metabolic; Child; Child, Preschool; Cli | 1998 |
20 other studies available for gamma-aminobutyric acid and Inborn Errors of Metabolism
| Article | Year |
|---|---|
Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders.
Topics: Adolescent; Adult; Biomarkers; Child; Child, Preschool; Cohort Studies; Epilepsy; Female; gamma-Amin | 2018 |
Role of Endogenous Metabolite Alterations in Neuropsychiatric Disease.
Topics: DiGeorge Syndrome; gamma-Aminobutyric Acid; Humans; Metabolism, Inborn Errors; Metabolomics; Molecul | 2018 |
Quantitation of gamma-hydroxybutyric acid in dried blood spots: feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency.
Topics: gamma-Aminobutyric Acid; Humans; Hydroxybutyrates; Infant, Newborn; Mass Spectrometry; Metabolism, I | 2013 |
[Succinic semialdehyde dehydrogenase deficiency: decrease in 4-OH-butyric acid levels with low doses of vigabatrin].
Topics: Adult; Dose-Response Relationship, Drug; Female; GABA Agents; gamma-Aminobutyric Acid; Humans; Infan | 2010 |
Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria).
Topics: Adult; Aldehyde Oxidoreductases; Atrophy; Cerebellum; Chromatography, High Pressure Liquid; Chromato | 2003 |
[A case of succinic semialdehyde dehydrogenase deficiency].
Topics: Aldehyde Oxidoreductases; Child, Preschool; Female; gamma-Aminobutyric Acid; Humans; Metabolism, Inb | 2003 |
Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria).
Topics: Adolescent; Aldehyde Oxidoreductases; Child, Preschool; Developmental Disabilities; gamma-Aminobutyr | 2004 |
Diagnostic challenges in a severely delayed infant with hypersomnolence, failure to thrive and arteriopathy: a unique case of gamma-hydroxybutyric aciduria and Williams syndrome.
Topics: Aortic Stenosis, Supravalvular; Developmental Disabilities; Diagnosis, Differential; Disorders of Ex | 2007 |
Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism.
Topics: 4-Aminobutyrate Transaminase; beta-Alanine; Brain; Carnosine; Diffuse Cerebral Sclerosis of Schilder | 1984 |
4-Hydroxybutyric aciduria: a new inborn error of metabolism. I. Clinical review.
Topics: Adolescent; Ataxia; Child; Female; gamma-Aminobutyric Acid; Humans; Hydroxybutyrate Dehydrogenase; H | 1984 |
4-Hydroxybutyric aciduria: a new inborn error of metabolism. II. Biochemical findings.
Topics: Adolescent; Child; Female; gamma-Aminobutyric Acid; Humans; Hydroxybutyrates; Male; Metabolism, Inbo | 1984 |
4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritance.
Topics: Carboxy-Lyases; Female; gamma-Aminobutyric Acid; Genes, Recessive; Humans; Hydroxybutyrate Dehydroge | 1984 |
Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency.
Topics: 4-Aminobutyrate Transaminase; Aldehyde Oxidoreductases; Brain Diseases, Metabolic; GABA Antagonists; | 1995 |
4-Hydroxybutyric aciduria: clinical findings and vigabatrin therapy.
Topics: Aldehyde Oxidoreductases; Anticonvulsants; Child; Female; gamma-Aminobutyric Acid; Gas Chromatograph | 1993 |
4-Hydroxybutyric aciduria.
Topics: Adult; Anticonvulsants; Brain; Child; Child, Preschool; Dextromethorphan; Female; gamma-Aminobutyric | 1994 |
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.
Topics: Adolescent; Adult; Aldehyde Oxidoreductases; Child; Child, Preschool; Developmental Disabilities; Di | 1997 |
[Non-ketotic hyperglycinemia: clinical and therapeutic course in three patients].
Topics: Dextromethorphan; Enzyme Inhibitors; Excitatory Amino Acid Antagonists; Female; Food Preservatives; | 1999 |
Inborn errors of carnosine and homocarnosine metabolism.
Topics: Adult; Aged; Carnosine; Dipeptides; Female; gamma-Aminobutyric Acid; Humans; Male; Metabolism, Inbor | 1990 |
Vigabatrin in GABA metabolism disorders.
Topics: Aminocaproates; Anticonvulsants; Child; Child, Preschool; Female; gamma-Aminobutyric Acid; Humans; M | 1989 |
A case of glutaric aciduria type I with unique abnormalities in the cerebral CT findings.
Topics: Baclofen; Female; gamma-Aminobutyric Acid; Gas Chromatography-Mass Spectrometry; Glutarates; Glutary | 1987 |