aspartic acid has been researched along with Galactosemias in 4 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.
Galactosemias: A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)
| 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) |
| "The most common causes of galactosemia are mutations of the gene coding galactose-1-phosphate uridyltransferase." | 1.31 | Distribution of Q188R and N314D mutations in the Hungarian galactosemic population. ( Gyurus, P; Horváth, A; Kis, A; Kosztolányi, G; László, A; Melegh, B; Schuler, A, 2000) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (25.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (25.00) | 29.6817 |
| 2010's | 2 (50.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| 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 | 1 |
| Achten, J | 1 |
| Bierau, J | 1 |
| Rubio-Gozalbo, ME | 1 |
| Coelho, AI | 1 |
| McAuley, M | 1 |
| Huang, M | 1 |
| Timson, DJ | 1 |
| Horváth, A | 1 |
| Gyurus, P | 1 |
| Kis, A | 1 |
| László, A | 1 |
| Schuler, A | 1 |
| Kosztolányi, G | 1 |
| Melegh, B | 1 |
| Adye, JC | 1 |
| Springer, GF | 1 |
| Murthy, JR | 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 | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
4 other studies available for aspartic acid and Galactosemias
| 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 |
Insight into the mechanism of galactokinase: Role of a critical glutamate residue and helix/coil transitions.
Topics: Adenosine Triphosphate; Aspartic Acid; Catalysis; Catalytic Domain; Galactokinase; Galactose; Galact | 2017 |
Distribution of Q188R and N314D mutations in the Hungarian galactosemic population.
Topics: Amino Acid Substitution; Arginine; Asparagine; Aspartic Acid; Galactosemias; Gene Frequency; Genetic | 2000 |
On the nature and function of the lipopolysaccharide receptor from human erythrocytes.
Topics: Aspartic Acid; Binding Sites; Cell Membrane; Erythrocytes; Escherichia coli; Galactosemias; Glutamat | 1973 |