A novel mutation in SLC2A1 gene causing GLUT-1 deficiency syndrome in a young adult patient.

Abstract excerpt

Üstyol A, Takahashi S, Hatipoğlu HU, Duman MA, Elevli M, Selçuk Duru HN. A novel mutation in SLC2A1 gene causing GLUT-1 deficiency syndrome in a young adult patient. Turk J Pediatr 2019; 61: 946-948. GLUT-1 deficiency syndrome is a rare, frequently unrecognized metabolic encephalopathy that is probably underdiagnosed. Although developmental delay, acquired microcephaly, spasticity, and impaired coordination were...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adolescent
• Share to Carbohydrate Metabolism, Inborn Errors