Pub. Date : 2019 Jul
PMID : 31095747
2 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 25 member 19 | Homo sapiens |
| 2 | In SLC25A19 and TPK1 defects, thiamine has also led to clinical stabilization in single cases. | Thiamine | solute carrier family 25 member 19 | Homo sapiens |