Pub. Date : 2016 Jul
PMID : 27191787
5 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | There are four major genetic defects (SLC19A2, SLC19A3, SLC25A19 and TPK1) involved in the metabolism and transport of thiamine through cellular and mitochondrial membranes. | Thiamine | solute carrier family 19 member 3 | Homo sapiens |
| 2 | Expert commentary: Doses of thiamine vary according to the genetic defect: for SLC19A2, the usual dose is 25-200 mg/day (1-4 mg/kg per day), for SLC19A3, 10-40 mg/kg per day, and for TPK1, 30 mg/kg per day. | Thiamine | solute carrier family 19 member 3 | Homo sapiens |
| 3 | Thiamine supplementation in SLC19A3-mutated patients restores CSF and intracellular thiamine levels, resulting in successful clinical benefits. | Thiamine | solute carrier family 19 member 3 | Homo sapiens |
| 4 | Thiamine supplementation in SLC19A3-mutated patients restores CSF and intracellular thiamine levels, resulting in successful clinical benefits. | Thiamine | solute carrier family 19 member 3 | Homo sapiens |
| 5 | In conclusion, evidence collected so far suggests that the administration of thiamine improves outcome in SLC19A-2, SLC19A3- and TPK1-mutated patients, so most efforts should be aimed at early diagnosis of these disorders. | Thiamine | solute carrier family 19 member 3 | Homo sapiens |