Search results
Results from the WOW.Com Content Network
GLUT1 deficiency is characterized by an array of signs and symptoms including mental and motor developmental delays, infantile seizures refractory to anticonvulsants, ataxia, dystonia, dysarthria, opsoclonus, spasticity, other paroxysmal neurologic phenomena and sometimes deceleration of head growth also known as microcephaly. The presence and ...
Mutations in the GLUT1 gene are responsible for GLUT1 deficiency or De Vivo disease, which is a rare autosomal dominant disorder. [14] This disease is characterized by a low cerebrospinal fluid glucose concentration (hypoglycorrhachia), a type of neuroglycopenia, which results from impaired glucose transport across the blood–brain barrier.
GLUT1: Is widely distributed in fetal tissues. In the adult, it is expressed at highest levels in erythrocytes and also in the endothelial cells of barrier tissues such as the blood–brain barrier. It is responsible for the low level of basal glucose uptake required to sustain respiration in all cells.
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.
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. [4] Due to its ubiquitous presence, it is proposed that GLUT1 is at least somewhat responsible for basal glucose uptake. [4]
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 ().
Hypoglycorrhachia is associated with Glucose transporter type 1 GLUT1 deficiency syndrome (De Vivo disease). [7] Perhaps a much more common example of the same phenomenon occurs in the people with poorly controlled type 1 diabetes who develop symptoms of hypoglycemia at levels of blood glucose which are normal for most people.
Hypoglycorrhachia (low CSF glucose levels) can be caused by CNS infections, inflammatory conditions, subarachnoid hemorrhage, hypoglycemia (low blood sugar), [3] impaired glucose transport (e.g. GLUT1 deficiency syndrome), increased CNS glycolytic activity and metastatic carcinoma.