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.
^ ab"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.
GLUT1deficiency syndrome, also known as GLUT1-DS, De Vivo disease or Glucose transporter type 1 deficiency syndrome, is an autosomal dominant genetic...
and II. GLUT1 accounts for 2 percent of the protein in the plasma membrane of erythrocytes. Mutations in this gene can cause GLUT1deficiency syndrome...
can only manage toe walking. Toe walking is a symptom in those with GLUT1deficiency Syndrome. There are many health professionals who assess and treat...
movements, termed aberrant gaze saccades, are an early symptom of GLUT1deficiency syndrome in infancy.[non-primary source needed] When the brain is led...
cause abnormal electrochemical discharges that result in seizures GLUT1deficiency syndrome Anorexia nervosa, bulimia nervosa, and other eating disorders...
breast, lung, or ovarian cancer in adults. Other considerations include GLUT1Deficiency Syndrome, multiple sclerosis, toxins, medication effects (e.g. Serotonin...
syndrome Frontotemporal dementia caused by mutations in progranulin GLUT1deficiency (DeVivo syndrome) Haploinsufficiency of A20 Haploinsufficiency of PRR12...
discovery of mutations in uniporters has been linked to diseases such as GLUT1deficiency syndrome, cystic fibrosis, Hartnup disease, primary hyperoxaluria and...
include genetic disorders such as Down syndrome, Fragile X syndrome and GLUT1Deficiency Syndrome; childhood infections such as meningitis or encephalitis,...
hypoglycorrhacia]. Hypoglycorrhachia is associated with Glucose transporter type 1 GLUT1deficiency syndrome (De Vivo disease). Perhaps a much more common example of the...
Cycle. Trials on this drug as treatment for a different condition, Glut1deficiency, a seizure disorder, were halted in 2017 due to a failure of a mid...
Wang D, Lecumberri B, Yang H, Mao X, Yang R, De Vivo DC (May 2004). "GLUT1deficiency and other glucose transporter diseases". European Journal of Endocrinology...
mutations in the GLUT1 glucose transporter which can result in transient energy deficits in the basal ganglia. See GLUT1deficiency syndrome. Diagnosis...
import ascorbate across plasma membranes. The Hexose Transporter proteins GLUT1, GLUT3 and GLUT4 transfer only the oxydized dehydroascorbic acid (DHA) form...
and kidneys, also out of) the cell. De Vivo disease (GLUT1deficiency) is a deficiency of GLUT1, which is needed to transport glucose across the blood-brain...
of glucose transporters; however, the most significant for study are GLUT1-4. GLUT1 and GLUT3 are located in the plasma membrane of cells throughout the...
phagocytosis of tumor cells. Utilizing a mouse model, they identified that both Glut1 and glucose metabolism increased in TANs found within a mouse who possessed...
activation by Skp2 is linked to aerobic glycolysis, as Skp2 deficiency impairs Akt activation, Glut1 expression, and glucose uptake thereby promoting cancer...
inducible factor (HIF) to transactivate angiogenic genes such as VEGF and GLUT1. Sprouted vessels can self-organise into luminal morphologies, and fusion...
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