GLUT1 deficiency, also known as De Vivo disease, is an autosomal dominant, genetic metabolic disorder associated with a deficiency of GLUT1, the protein that. Disease definition. Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is. Type 1 glucose transporter (Glut1) deficiency: Manifestations of a hereditary Deficiencia del transportador de glucosa tipo 1 (Glut1): manifestaciones de un.
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Glucose, the main source of energy in the cell, is transported in most cells through facilitated diffusion, by the transporter proteins present in the plasma membrane. Physiopathological changes in glucose transport started to be analysed through transporters with a view to future preventive or therapeutic approaches.
In familial renal glycosuria, the participation of SGLT2 and SGLT1 seems to be fundamental, either by loss of transport capacity or by decrease in the transporter affinity. De Vivo’s syndrome, described in convulsive infants with hypoglycorrachia during normoglycaemia, has been attributed to a reduction in the GLUT1 content in endothelial cells at the blood-brain barrier.
Extensive studies have been conducted to assess the role of GLUT4 in changes related to insulin sensitiveness, such as diabetes mellitus type 2 DM2. These studies have revealed that, in DM2, the GLUT4 content is drastically reduced, playing an important role in insulin resistance.
In obesity, the GLUT4 content is not diminished providing that insulin sensitiveness is preserved. It is plausible to propose that the modulation of GLUT4 is triggered by a combination of factors indicating cellular sensitiveness to insulin.
A topologia dos transportadores de glicose GLUTs inicialmente proposta por Mueckler e cols 2 para o GLUT 1, e posteriormente confirmada para as outras isoformas 12e pode ser vista na Figura 1. Molecular biology of mammaliam glucose transporters. Diabetes Care ; Sequence and structure of a human glucose transporter. Regulation of glucose-transporter function. Diabetes Care ; Molecular physiology of glucose transporters.
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Transportadores de glicose
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