page_title: GLUT1 deficiency
section_title: Genetics
hierarchical_section_title: GLUT1 deficiency / Genetics
caption_attribution_description: English: Glucose transporter
context_page_description: 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. Glucose Transporter Type 1 Deficiency Syndrome has an estimated birth incidence of 1 in 90,000. This birth incidence translates to an estimated prevalence of 3,000 to 7,000 in the U.S.
context_section_description: The GLUT1 protein that transports glucose across the blood brain barrier is made by the SLC2A1 gene, located on chromosome 1. 
  In GLUT1 deficiency Syndrome one of the two genes is damaged by a mutation and insufficient protein is made. As a result, insufficient glucose is passing the blood brain barrier. Having less functional GLUT1 protein reduces the amount of glucose available to brain cells, which affects brain development and function. Because glucose is the primary source of fuel for the brain, patients with GLUT1 deficiency have insufficient cellular energy to permit normal brain growth and function.
  Around 90% of cases of GLUT1 deficiency syndrome are de novo mutations of the SLC2A1 gene (a mutation not present in the parents, but present in one of the two copies of the gene in the baby), although it can be inherited. 
  Glut 1 Deficiency can be inherited in an autosomal dominant manner. A person with GLUT1 deficiency syndrome has a 50% chance of passing along the altered SLC2A1 gene to his or her offspring.
caption: Glut1 Transporter
exif: {}