aspartic acid has been researched along with Metabolism, Inborn Errors in 33 studies
Aspartic Acid: One of the non-essential amino acids commonly occurring in the L-form. It is found in animals and plants, especially in sugar cane and sugar beets. It may be a neurotransmitter.
aspartic acid : An alpha-amino acid that consists of succinic acid bearing a single alpha-amino substituent
L-aspartic acid : The L-enantiomer of aspartic acid.
Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need." | 7.88 | Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. ( Achten, J; Berry, GT; Bierau, J; Coelho, AI; Demirbas, D; Derks, B; Haskovic, M; Huang, X; Mackinnon, S; Nyakayiru, J; Peake, RWA; Qi, W; Rubio-Gozalbo, ME; Trommelen, J; van der Ploeg, L; van Loon, LJC; Yue, WW; Zha, L, 2018) |
| "Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need." | 3.88 | Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. ( Achten, J; Berry, GT; Bierau, J; Coelho, AI; Demirbas, D; Derks, B; Haskovic, M; Huang, X; Mackinnon, S; Nyakayiru, J; Peake, RWA; Qi, W; Rubio-Gozalbo, ME; Trommelen, J; van der Ploeg, L; van Loon, LJC; Yue, WW; Zha, L, 2018) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 26 (78.79) | 18.7374 |
| 1990's | 2 (6.06) | 18.2507 |
| 2000's | 2 (6.06) | 29.6817 |
| 2010's | 1 (3.03) | 24.3611 |
| 2020's | 2 (6.06) | 2.80 |
| Authors | Studies |
|---|---|
| Borst, P | 1 |
| Broeks, MH | 1 |
| van Karnebeek, CDM | 1 |
| Wanders, RJA | 1 |
| Jans, JJM | 1 |
| Verhoeven-Duif, NM | 1 |
| Haskovic, M | 1 |
| Derks, B | 1 |
| van der Ploeg, L | 1 |
| Trommelen, J | 1 |
| Nyakayiru, J | 1 |
| van Loon, LJC | 1 |
| Mackinnon, S | 1 |
| Yue, WW | 1 |
| Peake, RWA | 1 |
| Zha, L | 1 |
| Demirbas, D | 1 |
| Qi, W | 1 |
| Huang, X | 1 |
| Berry, GT | 2 |
| Achten, J | 1 |
| Bierau, J | 1 |
| Rubio-Gozalbo, ME | 1 |
| Coelho, AI | 1 |
| Jan, W | 1 |
| Zimmerman, RA | 1 |
| Wang, ZJ | 1 |
| Kaplan, PB | 1 |
| Kaye, EM | 1 |
| Tavazzi, B | 1 |
| Lazzarino, G | 1 |
| Leone, P | 1 |
| Amorini, AM | 1 |
| Bellia, F | 1 |
| Janson, CG | 1 |
| Di Pietro, V | 1 |
| Ceccarelli, L | 1 |
| Donzelli, S | 1 |
| Francis, JS | 1 |
| Giardina, B | 1 |
| Fujii, H | 1 |
| Krietsch, WK | 1 |
| Yoshida, A | 1 |
| Hanefeld, F | 1 |
| Kruse, B | 1 |
| Bruhn, H | 1 |
| Frahm, J | 1 |
| Kugel, H | 1 |
| Heindel, W | 1 |
| Roth, B | 1 |
| Ernst, S | 1 |
| Lackner, K | 1 |
| Isenberg, JN | 1 |
| Sharp, HL | 1 |
| Smith, LH | 1 |
| Gilmour, L | 1 |
| Divry, P | 1 |
| Mathieu, M | 1 |
| Harkness, RA | 1 |
| Purkiss, P | 1 |
| Duffy, S | 1 |
| Chalmers, RA | 1 |
| Jones, M | 1 |
| Aula, P | 3 |
| Karjalainen, O | 1 |
| Pollitt, RJ | 3 |
| Jenner, FA | 3 |
| Merskey, H | 1 |
| Palo, J | 7 |
| Savolainen, H | 3 |
| Autio, S | 5 |
| Visakorpi, JK | 1 |
| Järvinen, H | 1 |
| Näntö, V | 2 |
| Pretty, KM | 1 |
| Ghadimi, H | 1 |
| Kumar, S | 1 |
| Szám, I | 1 |
| de Groot, CJ | 1 |
| Hommes, FA | 1 |
| Laipio, ML | 1 |
| Daniel, WL | 1 |
| Higgins, JV | 1 |
| Mattsson, K | 2 |
| Baumgartner, R | 1 |
| Scheidegger, S | 1 |
| Stalder, G | 1 |
| Hottinger, A | 1 |
| Sprinkle, T | 1 |
| Greer, M | 1 |
| Williams, CM | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Does Arginine Enhance Galactose Oxidative Capacity in Classic Galactosemia: A Pilot Study[NCT03580122] | Phase 2 | 4 participants (Actual) | Interventional | 2017-12-05 | Completed | ||
| Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders[NCT02935283] | 56 participants (Anticipated) | Observational | 2016-08-31 | Recruiting | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
4 reviews available for aspartic acid and Metabolism, Inborn Errors
| Article | Year |
|---|---|
The malate-aspartate shuttle (Borst cycle): How it started and developed into a major metabolic pathway.
Topics: Animals; Aspartate Aminotransferases; Aspartic Acid; Cell Respiration; Humans; Malate Dehydrogenase; | 2020 |
Inborn disorders of the malate aspartate shuttle.
Topics: Animals; Aspartate Aminotransferases; Aspartic Acid; Cell Respiration; Humans; Infant; Malate Dehydr | 2021 |
Current status of monosodium glutamate.
Topics: Acetylcholine; Animals; Aspartic Acid; Central Nervous System; Cholinesterases; Deficiency Diseases; | 1972 |
[Hyperammoniemia and its treatment].
Topics: Ammonia; Arginine; Aspartic Acid; Humans; Ketoglutaric Acids; Liver; Malates; Metabolism, Inborn Err | 1973 |
29 other studies available for aspartic acid and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.
Topics: Arginine; Aspartic Acid; Cells, Cultured; Fibroblasts; Galactose; Galactosemias; Humans; Metabolism, | 2018 |
MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Amino Acids, Branched-Chain; Aspartic Acid; Basal | 2003 |
Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism.
Topics: Adolescent; Adult; Amino Acids; Amniotic Fluid; Aspartic Acid; Canavan Disease; Child; Child, Presch | 2005 |
A single amino acid substitution (Asp leads to Asn) in a phosphoglycerate kinase variant (PGK München) associated with enzyme deficiency.
Topics: Amino Acid Sequence; Amino Acids; Asparagine; Aspartic Acid; Erythrocytes; Genetic Variation; Humans | 1980 |
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 |
Proton MR spectroscopy in infants with cerebral energy deficiency due to hypoxia and metabolic disorders.
Topics: Aspartic Acid; Basal Ganglia; Brain; Brain Diseases, Metabolic; Child, Preschool; Follow-Up Studies; | 1998 |
Aspartylglucosaminuria: psychomotor retardation masquerading as a mucopolysaccharidosis.
Topics: Amidohydrolases; Aminoglycosides; Aspartic Acid; Child, Preschool; Chromatography, Thin Layer; Cleid | 1975 |
Determination of urinary carbamylaspartate and dihydro-orotate in normal subjects and in patients with hereditary orotic aciduria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Aspartic Acid; Child; Child, Preschool; Female; Humans; | 1975 |
Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.
Topics: Amidohydrolases; Aspartic Acid; Central Nervous System Diseases; Genes, Recessive; Humans; Metabolis | 1989 |
The effects of fetal energy depletion on amniotic fluid concentrations of amino acids, organic acids and related metabolites.
Topics: Adenosine Triphosphate; Amino Acids; Amniotic Fluid; Arginine; Aspartic Acid; Asphyxia Neonatorum; D | 1988 |
Prenatal karyotype analysis in high risk families.
Topics: Aminohydrolases; Amniocentesis; Amniotic Fluid; Aspartic Acid; Cells, Cultured; Chromosome Aberratio | 1973 |
Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect.
Topics: Adult; Asparagine; Aspartic Acid; Female; Glucosamine; Glucosidases; Glycoproteins; Humans; Intellec | 1968 |
The proteins of human myelin in inborn errors of metabolism and in chromosomal anomalies.
Topics: Adolescent; Adult; Aspartic Acid; Autopsy; Brain; Child; Down Syndrome; Electrophoresis, Polyacrylam | 1973 |
Aspartylglycosaminuria (AGU). Further aspects on its clinical picture, mode of inheritance and epidemiology based on a series of 57 patients.
Topics: Adolescent; Adult; Amidohydrolases; Aspartic Acid; Bone Marrow; Child; Child, Preschool; Consanguini | 1973 |
Biochemical diagnosis of aspartylglycosaminuria.
Topics: Adult; Amidohydrolases; Aspartic Acid; Brain Chemistry; Chromatography, Thin Layer; Copper; Female; | 1973 |
Cultured skin fibroblasts in disorders of glycoprotein catabolism and I-cell disease.
Topics: Amidohydrolases; Aspartic Acid; Cells, Cultured; Clinical Enzyme Tests; Diagnosis, Differential; Fib | 1974 |
The glycoasparagines in urine of a patient with aspartylglycosaminuria.
Topics: Asparagine; Aspartic Acid; Chromatography, Gas; Chromatography, Gel; Chromatography, Ion Exchange; E | 1974 |
The biochemistry of aspartylglycosaminurias.
Topics: Amidohydrolases; Aspartic Acid; Glucosamine; Humans; Metabolism, Inborn Errors | 1972 |
Further speculation on the pathogenesis of Leigh's encephalomyelopathy.
Topics: Aspartic Acid; Brain Stem; Citric Acid Cycle; Encephalomalacia; Humans; Intellectual Disability; Lig | 1973 |
Medical research council unit for metabolic studies in psychiatry, Sheffield.
Topics: Amino Acid Metabolism, Inborn Errors; Aspartic Acid; Bipolar Disorder; Catatonia; Circadian Rhythm; | 1973 |
Aspartylglucosaminuria: deficiency of aspartylglucosaminidase in cultured fibroblasts of patients and their heterozygous parents.
Topics: Amidohydrolases; Aspartic Acid; Cells, Cultured; Chromatography, Ion Exchange; Chromatography, Paper | 1973 |
Picture of the Month. Aspartylglucosaminuria.
Topics: Adolescent; Aspartic Acid; Body Height; Child; Child, Preschool; Chromatography, Thin Layer; Chromos | 1974 |
[Aspartylglucosaminuria].
Topics: Adolescent; Adult; Amidohydrolases; Aspartic Acid; Child; Child, Preschool; Female; Glucosamine; Hum | 1972 |
Biochemical and genetic investigation of the de Lange syndrome.
Topics: Agammaglobulinemia; Alanine Transaminase; Aspartate Aminotransferases; Aspartic Acid; Blood Glucose; | 1971 |
Chromatographic isolation of 2-acetamido-1-(beta'-L-aspartamido)-1,2-dideoxy-beta-D-glucose from urine.
Topics: Amino Sugars; Aspartic Acid; Chromatography, Ion Exchange; Chromatography, Paper; Glucosamine; Metab | 1970 |
Eleven new cases of aspartylglucosaminuria.
Topics: Abnormalities, Multiple; Acetamides; Adolescent; Adult; Aspartic Acid; Chromatography; Electroenceph | 1970 |
[Argininosuccinic aciduria disease of the newborn with lethal course].
Topics: Adult; Alanine; Amino Acids; Aminobutyrates; Anticonvulsants; Aspartic Acid; Brain Diseases; Chromat | 1968 |
Detection of argininosuccinic aciduria by gas chromatography.
Topics: Arginine; Aspartic Acid; Ataxia; Chemical Precipitation; Chromatography, Gas; Epilepsy; Esters; Huma | 1969 |
Enzymatic cleavage of 2-acetamido-1-(beta'-L-aspartamido)-1,2-dideoxy-beta-D-glucose by human plasma and seminal fluid. Failure to detect the heterozygous state for aspartylglycosaminuria.
Topics: Amides; Aspartic Acid; Carbohydrates; Chromatography, Gel; Chromatography, Ion Exchange; Dextrans; E | 1969 |