2-aminoadipic acid has been researched along with Epilepsy in 22 studies
2-Aminoadipic Acid: A metabolite in the principal biochemical pathway of lysine. It antagonizes neuroexcitatory activity modulated by the glutamate receptor, N-METHYL-D-ASPARTATE; (NMDA).
2-aminoadipic acid : An alpha-amino acid that is adipic acid bearing a single amino substituent at position 2. An intermediate in the formation of lysine.
Epilepsy: A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)
| Excerpt | Relevance | Reference |
|---|---|---|
| "The measurements of lysine metabolites provide valuable information for the rapid diagnosis of pyridoxine-dependent epilepsy (PDE)." | 7.91 | Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy. ( Gong, P; Jiang, S; Jiang, Y; Li, H; Wang, J; Wu, M; Wu, Y; Xue, J; Yang, W; Yang, Z; Yuzyuk, T; Zhang, Y, 2019) |
| "We report treatment outcome of eleven patients with pyridoxine-dependent epilepsy caused by pathogenic variants in ALDH7A1 (PDE-ALDH7A1)." | 7.85 | Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy. ( Al Teneiji, A; Bruun, TU; Cordeiro, D; Inbar-Feigenberg, M; Mercimek-Mahmutoglu, S; Patel, J; Struys, E; Weiss, S, 2017) |
| "Pyridoxine-dependent epilepsy (PDE) was first described in 1954." | 7.78 | Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy. ( Connolly, MB; Coulter-Mackie, M; Horvath, GA; Jakobs, C; Mercimek-Mahmutoglu, S; Nelson, T; Sargent, M; Stockler-Ipsiroglu, S; Struys, E; Waters, PJ, 2012) |
| "To evaluate the efficacy and safety of dietary lysine restriction as an adjunct to pyridoxine therapy on biochemical parameters, seizure control, and developmental/cognitive outcomes in children with pyridoxine-dependent epilepsy (PDE) caused by antiquitin (ATQ) deficiency." | 7.78 | Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. ( Bok, LA; Cheng, B; Collet, JP; Connolly, M; Coughlin, CR; Das, AM; Gospe, SM; Hartmann, H; Jaggumantri, S; Jakobs, C; Mercimek-Mahmutoglu, S; Meyer, U; Plecko, BR; Sinclair, G; Stockler, S; Struys, E; van der Lee, JH; Van Hove, J; van Karnebeek, CD, 2012) |
| "Pyridoxine-dependent epilepsy presents early in life, even in utero." | 7.78 | A case of extreme prematurity and delayed diagnosis of pyridoxine-dependent epilepsy. ( Al-Saman, AS; Rizk, TM, 2012) |
| "α-Amino adipic semialdehyde (α-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition." | 7.78 | Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency. ( Al Shahwan, S; Bakkali, A; Nota, B; Salomons, GS; Struys, EA; Tabarki, B, 2012) |
| "Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-alpha-aminoadipic semialdehyde/L-Delta1-piperideine 6-carboxylate." | 7.76 | Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). ( Aylett, S; Baxter, P; Christensen, E; Clayton, PT; Craigen, WJ; De Lonlay, P; Dulac, O; Feillet, F; Footitt, EJ; Hemingway, C; Hughes, MI; Jakobs, C; Marlow, N; Mills, KA; Mills, PB; Nabbout, R; Pike, MG; Rennie, J; Schmitt, B; Struys, EA; Tuschl, K; Varadkar, S; Zuberi, SM, 2010) |
| "Recently we reported that astroglial loss and subsequent gliogenesis in the dentate gyrus play a role in epileptogenesis following pilocarpine-induced status epilepticus (SE)." | 7.74 | Spatiotemporal characteristics of astroglial death in the rat hippocampo-entorhinal complex following pilocarpine-induced status epilepticus. ( Choi, KC; Choi, SY; Kang, TC; Kim, DS; Kim, DW; Kim, JE; Kwak, SE; Kwon, OS, 2008) |
| "Diagnosis of pyridoxine-dependent epilepsy is based on the clinical response to high-dosage application of pyridoxine." | 7.70 | Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. ( Erwa, W; Jakobs, C; Paschke, E; Plecko, B; Stöckler-Ipsiroglu, S; Struys, EA, 2000) |
| " Antiquitin deficiency is the most common form of pyridoxine-dependent epilepsy." | 5.05 | Inherited Disorders of Lysine Metabolism: A Review. ( Bouchereau, J; Schiff, M, 2020) |
| "The measurements of lysine metabolites provide valuable information for the rapid diagnosis of pyridoxine-dependent epilepsy (PDE)." | 3.91 | Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy. ( Gong, P; Jiang, S; Jiang, Y; Li, H; Wang, J; Wu, M; Wu, Y; Xue, J; Yang, W; Yang, Z; Yuzyuk, T; Zhang, Y, 2019) |
| "We report treatment outcome of eleven patients with pyridoxine-dependent epilepsy caused by pathogenic variants in ALDH7A1 (PDE-ALDH7A1)." | 3.85 | Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy. ( Al Teneiji, A; Bruun, TU; Cordeiro, D; Inbar-Feigenberg, M; Mercimek-Mahmutoglu, S; Patel, J; Struys, E; Weiss, S, 2017) |
| "Pyridoxine-dependent epilepsy (PDE) was first described in 1954." | 3.78 | Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy. ( Connolly, MB; Coulter-Mackie, M; Horvath, GA; Jakobs, C; Mercimek-Mahmutoglu, S; Nelson, T; Sargent, M; Stockler-Ipsiroglu, S; Struys, E; Waters, PJ, 2012) |
| "To evaluate the efficacy and safety of dietary lysine restriction as an adjunct to pyridoxine therapy on biochemical parameters, seizure control, and developmental/cognitive outcomes in children with pyridoxine-dependent epilepsy (PDE) caused by antiquitin (ATQ) deficiency." | 3.78 | Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. ( Bok, LA; Cheng, B; Collet, JP; Connolly, M; Coughlin, CR; Das, AM; Gospe, SM; Hartmann, H; Jaggumantri, S; Jakobs, C; Mercimek-Mahmutoglu, S; Meyer, U; Plecko, BR; Sinclair, G; Stockler, S; Struys, E; van der Lee, JH; Van Hove, J; van Karnebeek, CD, 2012) |
| "Pyridoxine-dependent epilepsy presents early in life, even in utero." | 3.78 | A case of extreme prematurity and delayed diagnosis of pyridoxine-dependent epilepsy. ( Al-Saman, AS; Rizk, TM, 2012) |
| " We assessed the susceptibility to epilepsy after subthreshold dose of pilocarpine, as well as glial fibrillary acidic protein (GFAP) expression using immunohistochemistry." | 3.78 | Reactive astrocytes contribute to increased epileptic susceptibility induced by subthreshold dose of pilocarpine. ( Feng, B; Pan, XH; Sun, HL; Wang, CY; Xu, Y; Yang, LX; Zhang, SH; Zhang, SP; Zhong, K; Zhu, W, 2012) |
| "α-Amino adipic semialdehyde (α-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition." | 3.78 | Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency. ( Al Shahwan, S; Bakkali, A; Nota, B; Salomons, GS; Struys, EA; Tabarki, B, 2012) |
| "Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-alpha-aminoadipic semialdehyde/L-Delta1-piperideine 6-carboxylate." | 3.76 | Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). ( Aylett, S; Baxter, P; Christensen, E; Clayton, PT; Craigen, WJ; De Lonlay, P; Dulac, O; Feillet, F; Footitt, EJ; Hemingway, C; Hughes, MI; Jakobs, C; Marlow, N; Mills, KA; Mills, PB; Nabbout, R; Pike, MG; Rennie, J; Schmitt, B; Struys, EA; Tuschl, K; Varadkar, S; Zuberi, SM, 2010) |
| "Recently we reported that astroglial loss and subsequent gliogenesis in the dentate gyrus play a role in epileptogenesis following pilocarpine-induced status epilepticus (SE)." | 3.74 | Spatiotemporal characteristics of astroglial death in the rat hippocampo-entorhinal complex following pilocarpine-induced status epilepticus. ( Choi, KC; Choi, SY; Kang, TC; Kim, DS; Kim, DW; Kim, JE; Kwak, SE; Kwon, OS, 2008) |
| "Diagnosis of pyridoxine-dependent epilepsy is based on the clinical response to high-dosage application of pyridoxine." | 3.70 | Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. ( Erwa, W; Jakobs, C; Paschke, E; Plecko, B; Stöckler-Ipsiroglu, S; Struys, EA, 2000) |
| "Although epilepsy was well controlled upon treatment with pyridoxine, thiamine, phenytoin and carbamazepine since early infancy, both had developmental delay with prominent speech delay as children." | 1.38 | Variability of phenotype in two sisters with pyridoxine dependent epilepsy. ( Alfadhel, M; Coulter-Mackie, M; Sirrs, S; Stockler-Ipsiroglu, S; Struys, E; Szeitz, A; Waters, PJ, 2012) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (4.55) | 18.2507 |
| 2000's | 3 (13.64) | 29.6817 |
| 2010's | 17 (77.27) | 24.3611 |
| 2020's | 1 (4.55) | 2.80 |
| Authors | Studies |
|---|---|
| Bouchereau, J | 1 |
| Schiff, M | 1 |
| Korasick, DA | 1 |
| Wyatt, JW | 1 |
| Luo, M | 1 |
| Laciak, AR | 1 |
| Ruddraraju, K | 1 |
| Gates, KS | 1 |
| Henzl, MT | 1 |
| Tanner, JJ | 1 |
| Coughlin, CR | 2 |
| Swanson, MA | 1 |
| Spector, E | 1 |
| Meeks, NJL | 1 |
| Kronquist, KE | 1 |
| Aslamy, M | 1 |
| Wempe, MF | 1 |
| van Karnebeek, CDM | 1 |
| Gospe, SM | 3 |
| Aziz, VG | 1 |
| Tsai, BP | 1 |
| Gao, H | 1 |
| Nagy, PL | 1 |
| Hyland, K | 1 |
| van Dooren, SJM | 1 |
| Salomons, GS | 2 |
| Van Hove, JLK | 1 |
| Crowther, LM | 1 |
| Mathis, D | 1 |
| Poms, M | 1 |
| Plecko, B | 2 |
| Xue, J | 1 |
| Wang, J | 1 |
| Gong, P | 1 |
| Wu, M | 1 |
| Yang, W | 1 |
| Jiang, S | 1 |
| Wu, Y | 1 |
| Jiang, Y | 1 |
| Zhang, Y | 1 |
| Yuzyuk, T | 1 |
| Li, H | 1 |
| Yang, Z | 1 |
| Jung, S | 1 |
| Tran, NT | 1 |
| Hahn, SH | 1 |
| Ferrer-López, I | 1 |
| Ruiz-Sala, P | 1 |
| Merinero, B | 1 |
| Pérez-Cerdá, C | 1 |
| Ugarte, M | 1 |
| Yang, ZX | 1 |
| Qin, J | 1 |
| Pena, IA | 1 |
| Marques, LA | 1 |
| Laranjeira, ÂB | 1 |
| Yunes, JA | 1 |
| Eberlin, MN | 1 |
| MacKenzie, A | 1 |
| Arruda, P | 1 |
| Al Teneiji, A | 1 |
| Bruun, TU | 1 |
| Cordeiro, D | 1 |
| Patel, J | 1 |
| Inbar-Feigenberg, M | 1 |
| Weiss, S | 1 |
| Struys, E | 4 |
| Mercimek-Mahmutoglu, S | 3 |
| Tang, WK | 1 |
| Wong, KB | 1 |
| Lam, YM | 1 |
| Cha, SS | 1 |
| Cheng, CH | 1 |
| Fong, WP | 1 |
| Kim, DS | 1 |
| Kim, JE | 1 |
| Kwak, SE | 1 |
| Choi, KC | 1 |
| Kim, DW | 1 |
| Kwon, OS | 1 |
| Choi, SY | 1 |
| Kang, TC | 1 |
| Mills, PB | 1 |
| Footitt, EJ | 1 |
| Mills, KA | 1 |
| Tuschl, K | 1 |
| Aylett, S | 1 |
| Varadkar, S | 1 |
| Hemingway, C | 1 |
| Marlow, N | 1 |
| Rennie, J | 1 |
| Baxter, P | 1 |
| Dulac, O | 1 |
| Nabbout, R | 1 |
| Craigen, WJ | 1 |
| Schmitt, B | 1 |
| Feillet, F | 1 |
| Christensen, E | 1 |
| De Lonlay, P | 1 |
| Pike, MG | 1 |
| Hughes, MI | 1 |
| Struys, EA | 4 |
| Jakobs, C | 5 |
| Zuberi, SM | 1 |
| Clayton, PT | 1 |
| Bok, LA | 2 |
| Emal, D | 1 |
| Houterman, S | 1 |
| Willemsen, MA | 1 |
| Horvath, GA | 1 |
| Coulter-Mackie, M | 2 |
| Nelson, T | 1 |
| Waters, PJ | 2 |
| Sargent, M | 1 |
| Stockler-Ipsiroglu, S | 3 |
| Connolly, MB | 1 |
| Alfadhel, M | 1 |
| Sirrs, S | 1 |
| Szeitz, A | 1 |
| van Karnebeek, CD | 1 |
| Hartmann, H | 1 |
| Jaggumantri, S | 1 |
| Cheng, B | 1 |
| Connolly, M | 1 |
| Das, AM | 1 |
| van der Lee, JH | 1 |
| Meyer, U | 1 |
| Sinclair, G | 1 |
| Van Hove, J | 1 |
| Collet, JP | 1 |
| Plecko, BR | 1 |
| Stockler, S | 1 |
| Al-Saman, AS | 1 |
| Rizk, TM | 1 |
| Zhu, W | 1 |
| Zhang, SH | 1 |
| Feng, B | 1 |
| Zhong, K | 1 |
| Yang, LX | 1 |
| Sun, HL | 1 |
| Zhang, SP | 1 |
| Xu, Y | 1 |
| Wang, CY | 1 |
| Pan, XH | 1 |
| Nota, B | 1 |
| Bakkali, A | 1 |
| Al Shahwan, S | 1 |
| Tabarki, B | 1 |
| Xiong, ZQ | 1 |
| Stringer, JL | 1 |
| Paschke, E | 1 |
| Erwa, W | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Standardized Evaluation of Long-term Neurocognitive Development of Children From Age 3 With Pyridoxine Dependent Epilepsy by Antiquitine Deficiency[NCT06054347] | 30 participants (Anticipated) | Observational | 2023-11-01 | Not yet recruiting | |||
| Neurodevelopmental Outcome of Early Dietary Lysine Restriction in Pyridoxine[NCT01795170] | 0 participants (Actual) | Observational | 2013-04-30 | Withdrawn (stopped due to The study couldn't be initiated as we did not secure funding.) | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
3 reviews available for 2-aminoadipic acid and Epilepsy
| Article | Year |
|---|---|
Inherited Disorders of Lysine Metabolism: A Review.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Arginine; Brain; B | 2020 |
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Epilepsy; Genotype; Humans; Mutation | 2019 |
[Advances in clinical and molecular genetic research on pyridoxine dependent epilepsy].
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Anticonvulsants; Biomarkers; Brain; DNA Mutational Analy | 2013 |
19 other studies available for 2-aminoadipic acid and Epilepsy
| Article | Year |
|---|---|
Importance of the C-Terminus of Aldehyde Dehydrogenase 7A1 for Oligomerization and Catalytic Activity.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Biocatalysis; Epilepsy; Humans; Kinetics; Lysine; Protei | 2017 |
New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Epilepsy; Humans; Lysine; Metabolic Networks and Pathway | 2019 |
Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy.
Topics: 2-Aminoadipic Acid; Biomarkers; Child; Child, Preschool; Chromatography, Liquid; Epilepsy; Female; H | 2019 |
Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS.
Topics: 2-Aminoadipic Acid; Biomarkers; Chromatography, Liquid; Epilepsy; Female; Humans; Infant, Newborn; M | 2013 |
Determination of urinary alpha-aminoadipic semialdehyde by LC-MS/MS in patients with congenital metabolic diseases.
Topics: 2-Aminoadipic Acid; Adolescent; Child, Preschool; Chromatography, Liquid; Epilepsy; Humans; Infant; | 2014 |
Mouse lysine catabolism to aminoadipate occurs primarily through the saccharopine pathway; implications for pyridoxine dependent epilepsy (PDE).
Topics: 2-Aminoadipic Acid; Animals; Epilepsy; Female; Lysine; Metabolic Networks and Pathways; Mice; Mice, | 2017 |
Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.
Topics: 2-Aminoadipic Acid; Adolescent; Aldehyde Dehydrogenase; Arginine; Child; Child, Preschool; Cohort St | 2017 |
The crystal structure of seabream antiquitin reveals the structural basis of its substrate specificity.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Animals; Crystallography, X-Ray; Epilepsy; Fish Proteins | 2008 |
Spatiotemporal characteristics of astroglial death in the rat hippocampo-entorhinal complex following pilocarpine-induced status epilepticus.
Topics: 2-Aminoadipic Acid; Animals; Astrocytes; Cell Death; Cell Proliferation; Convulsants; Disease Models | 2008 |
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Biomarkers; Epilepsy; Female; Genotype; Humans; Infant; | 2010 |
The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Diet; Epilepsy; Humans; Lysine; Picolinic Acids | 2012 |
Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.
Topics: 2-Aminoadipic Acid; Acidosis, Lactic; Aldehyde Dehydrogenase; Alleles; Anticonvulsants; Brain; Diffu | 2012 |
Variability of phenotype in two sisters with pyridoxine dependent epilepsy.
Topics: 2-Aminoadipic Acid; Disease Progression; Epilepsy; Female; Humans; Phenotype; Siblings; Young Adult | 2012 |
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Child; Child, Preschool; Cognition; Diet; Epilepsy; Fema | 2012 |
A case of extreme prematurity and delayed diagnosis of pyridoxine-dependent epilepsy.
Topics: 2-Aminoadipic Acid; Electroencephalography; Epilepsy; Humans; Infant; Magnetic Resonance Imaging; Ma | 2012 |
Reactive astrocytes contribute to increased epileptic susceptibility induced by subthreshold dose of pilocarpine.
Topics: 2-Aminoadipic Acid; Analysis of Variance; Animals; Astrocytes; Brain; Disease Models, Animal; Diseas | 2012 |
Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Brain; Child, Preschool; Consanguinity; Developmental Di | 2012 |
Astrocytic regulation of the recovery of extracellular potassium after seizures in vivo.
Topics: 2-Aminoadipic Acid; Action Potentials; Animals; Astrocytes; Citrates; Dentate Gyrus; Electrophysiolo | 1999 |
Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy.
Topics: 2-Aminoadipic Acid; Child; Epilepsy; Humans; Infant, Newborn; Male; Picolinic Acids; Pipecolic Acids | 2000 |