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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]
n/a Ensembl n/a n/a UniProt n a n/a RefSeq (mRNA) n/a n/a RefSeq (protein) n/a n/a Location (UCSC) n/a n/a PubMed search n/a n/a Wikidata View/Edit Human Glucose transporter 1 (or GLUT1), also known as solute carrier family 2, facilitated glucose transporter member 1 (SLC2A1), is a uniporter protein that in humans is encoded by the SLC2A1 gene. GLUT1 facilitates the transport of glucose across ...
Glucose-galactose malabsorption generally becomes apparent in the first few weeks of a baby's life. Affected infants experience severe diarrhea resulting in life-threatening dehydration, increased acidity of the blood and tissues , and weight loss when fed breast milk or regular infant formulas. However, they are able to digest fructose-based ...
Nutritional deficiency is far from a leading cause of death in the United States, but the mortality rate has grown significantly enough in recent years to impact life expectancy.
De Vivo disease (GLUT1 deficiency) is a deficiency of GLUT1, which is needed to transport glucose across the blood-brain barrier. Fanconi-Bickel syndrome (GLUT2 deficiency, formally known as GSD -XI) is a deficiency of GLUT2, which is needed for the transport of glucose between liver and blood.
Because glucose is a vital source of energy for all life, these transporters are present in all phyla. The GLUT or SLC2A family are a protein family that is found in most mammalian cells. 14 GLUTS are encoded by the human genome. GLUT is a type of uniporter transporter protein.
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. [1] The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others ().
GLUT1 is a hydrophobic protein and 50% of GLUT1 is in the lipid bilayer. GLUT1 is present in the placenta, brain, epithelial cells of the mammary gland, transformed cells, and fetal tissue. [ 5 ] Due to its ubiquitous presence, it is proposed that GLUT1 is at least somewhat responsible for basal glucose uptake. [ 5 ]