Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome.
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DOI: 10.1002/acn3.51462
Abstract: Glut1 deficiency syndrome is caused by SLC2A1 mutations on chromosome 1p34.2 that impairs glucose transport across the blood-brain barrier resulting in hypoglycorrhachia and decreased fuel for brain metabolism. Neuroglycopenia causes a drug-resistant metabolic epilepsy due… read more here.
Keywords: deficiency syndrome; deficiency; treatment glut1; glut1 deficiency ... See more keywords