aspartic acid has been researched along with Homocystinuria in 3 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.
Homocystinuria: Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Patients with homocystinuria due to remethylation defects have an isolated brain choline deficiency, probably secondary to depletion of labile methyl groups produced by the transmethylation pathway." | 7.74 | Reduced brain choline in homocystinuria due to remethylation defects. ( Blom, HJ; Boulanger, Y; Debray, FG; Decarie, JC; Jakobs, C; Khiat, A; Lambert, M; Levy, E; Lortie, A; Mitchell, GA; Orquin, J; Ramos, F; Roy, MS; Struys, E; Verhoeven, NM, 2008) |
| "We determined the molecular basis of cystathionine beta-synthase (CBS) deficiency in a partially pyridoxine-responsive homocystinuria patient." | 7.69 | Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. ( Blom, HJ; Boers, GH; Kluijtmans, LA; Kraus, JP; Renier, WO; Stevens, EM; Trijbels, FJ; van den Heuvel, LP, 1996) |
| "Patients with homocystinuria due to remethylation defects have an isolated brain choline deficiency, probably secondary to depletion of labile methyl groups produced by the transmethylation pathway." | 3.74 | Reduced brain choline in homocystinuria due to remethylation defects. ( Blom, HJ; Boulanger, Y; Debray, FG; Decarie, JC; Jakobs, C; Khiat, A; Lambert, M; Levy, E; Lortie, A; Mitchell, GA; Orquin, J; Ramos, F; Roy, MS; Struys, E; Verhoeven, NM, 2008) |
| "We determined the molecular basis of cystathionine beta-synthase (CBS) deficiency in a partially pyridoxine-responsive homocystinuria patient." | 3.69 | Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. ( Blom, HJ; Boers, GH; Kluijtmans, LA; Kraus, JP; Renier, WO; Stevens, EM; Trijbels, FJ; van den Heuvel, LP, 1996) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (33.33) | 18.7374 |
| 1990's | 1 (33.33) | 18.2507 |
| 2000's | 1 (33.33) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Debray, FG | 1 |
| Boulanger, Y | 1 |
| Khiat, A | 1 |
| Decarie, JC | 1 |
| Orquin, J | 1 |
| Roy, MS | 1 |
| Lortie, A | 1 |
| Ramos, F | 1 |
| Verhoeven, NM | 1 |
| Struys, E | 1 |
| Blom, HJ | 2 |
| Jakobs, C | 1 |
| Levy, E | 1 |
| Mitchell, GA | 1 |
| Lambert, M | 1 |
| Kluijtmans, LA | 1 |
| Boers, GH | 1 |
| Stevens, EM | 1 |
| Renier, WO | 1 |
| Kraus, JP | 1 |
| Trijbels, FJ | 1 |
| van den Heuvel, LP | 1 |
| Levy, HL | 1 |
| Barkin, E | 1 |
3 other studies available for aspartic acid and Homocystinuria
| Article | Year |
|---|---|
Reduced brain choline in homocystinuria due to remethylation defects.
Topics: Adolescent; Adult; Aspartic Acid; Brain; Brain Chemistry; Child; Child, Preschool; Choline; Choline | 2008 |
Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.
Topics: Adult; Amino Acid Sequence; Asparagine; Aspartic Acid; Base Sequence; Cystathionine beta-Synthase; D | 1996 |
Comparison of amino acid concentrations between plasma and erythrocytes. Studies in normal human subjects and those with metabolic disorders.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Aspartic Acid; Biological Transp | 1971 |