GLUT1 deficiency
| De Vivo disease | |
|---|---|
| Other names | De Vivo disease |
| De Vivo disease has an autosomal dominant pattern of inheritance | |
| Specialty | Medical genetics |
GLUT1 deficiency syndrome, also known as GLUT1-DS, De Vivo disease or Glucose transporter type 1 deficiency syndrome, is an autosomal dominant genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier.[1] Glucose Transporter Type 1 Deficiency Syndrome has an estimated birth incidence of 1 in 90,000[2] to 1 in 24,300.[3] This birth incidence translates to an estimated prevalence of 3,000 to 7,000 in the U.S.[2]
- ^ Todor, Arsov (2016). "Glut-1 deficiency: From Pathophysilogy ad genetics to abroad clinical spectrum". Sanamed. 11 (2): 151–155. doi:10.5937/sanamed1602151A.
- ^ a b "Understanding Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS): Current Management and Future Approaches". Epilepsy Foundation. Retrieved 2018-01-31.
- ^ Symonds (2019). "Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort". Brain. 142 (8): 2303–2318. doi:10.1093/brain/awz195. PMC 6658850. PMID 31302675.