Pub. Date : 2019 Jul
PMID : 31095747
5 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Currently, four genetic defects have been described causing impairment of thiamine transport and metabolism: SLC19A2 dysfunction leads to diabetes mellitus, megaloblastic anemia and sensory-neural hearing loss, whereas SLC19A3, SLC25A19, and TPK1-related disorders result in recurrent encephalopathy, basal ganglia necrosis, generalized dystonia, severe disability, and early death. | Thiamine | solute carrier family 19 member 3 | Homo sapiens |
| 2 | SLC19A3 patients present a profound decrease of free-thiamine in cerebrospinal fluid (CSF) and fibroblasts. | Thiamine | solute carrier family 19 member 3 | Homo sapiens |
| 3 | In a significant number of patients with SLC19A3, thiamine improves clinical outcome and survival, and prevents further metabolic crisis. | Thiamine | solute carrier family 19 member 3 | Homo sapiens |
| 4 | Moreover, thiamine supplementation leads to normal concentrations of free-thiamine in the CSF of SLC19A3 patients. | Thiamine | solute carrier family 19 member 3 | Homo sapiens |
| 5 | Moreover, thiamine supplementation leads to normal concentrations of free-thiamine in the CSF of SLC19A3 patients. | Thiamine | solute carrier family 19 member 3 | Homo sapiens |