DEFICIENCIA DE GLUT1 PDF

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.

Orphanet: Encefalopat a por deficiencia de GLUT1

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 dsficiencia 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.

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Regulation of glucose-transporter function. Diabetes Care ; Molecular physiology of glucose transporters. Nature Lond ; Cloning of a human cDNA with similarity to the sodium-glucose cotransporter.

Am J Physiol ; J Clin Invest ; J Biol Chem ; Nucleotide sequence of putP, the proline carrier of Escherichia coli K Mol Genet ; Jackowski S, Alix JH. Cloning sequence, and expression of the pantothenate permease panF gene of Escherichia coli. J Bacteriol ; Structure and function of mammalian facultative sugar transporters.

Molecular physiology of sodium-glucose cotransporters. Physiol Rev ; Mammaliam facilitative glucose transporters: Fructose transporter in human spermatozoa and small intestine is GLUT5.

Biochem J ; Cloning and characterization of the major insulin-responsive glucose transporter expressed in human skeletal muscle and other insulin-responsive tissues. Evidence for a family of human glucose transporter-like proteins.

Comparison of kinetic parameters. Structure and function of hexose transporters. Annu Rev Biochem ; Cloning and functional expresssion in bacteria of a novel glucose transporter present in liver, intestine, kidney, and B-pancreatic islet cells. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglcyrrachia, seizures, and developmental delay. N Engl J Med ; The Metabolic Basis of Inherited Diseases. Nature Lond ; Annu Rev Physiol ; Close genetic linkage defifiencia HLA and renal glycosuria.

Am J Nephrol ;4: Multiple roles of phosphatidylinositol 3-kinase in regulation of glucose transport, amino acid transport, and glucose transporters in L6 skeletal muscle cells. Immuno-localization of the insulin regulatable glucose transporter in brown adipose tissue of the rat.

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J Cell Biol ; A multifaceted syndrome responsible for NIDDM, obesity, hypertension, dyslipidemia, and atherosclerotic cardiovascular disease. Pretranslational suppression of a glucose transporter protein causes insulin resistance in adipocytes from patients with non-insulin-dependent diabetes mellitus and obesity.

Decreased expression of glucose transporter in muscle deficjencia insulin-resistant patients. Differential regulation dw adipose tissues glucose transporters in genetic obesity fatty rat.

Glucose transporter in insulin sensitive tissues of lean and obese mice. Effect of the thermogenic agent BRL A. Machado UF, Saito M. The effect of adipose cell size on the measurement of GLUT 4 in white adipose tissue of obese mice. Braz J Med Biol Res ; Decreased glucose transporter GLUT 4 content in insulin-sensitive glkt1 of obese aurothioglucose- and monosodium glutamate-treated mice. Horm Metab Res ; Reduced content and preserved translocation of glucose transporter GLUT 4 in white adipose tissue of obese mice.

Physiol Behav ; Loss of weight restores GLUT 4 content in insulin-sensitive tissues of monosodium glutamate-treated obese mice. Int J Obes ; Tese – Mestrado -Escola Paulista de Medicina.

Quantification of GLUT4 transporter in insulin-sensitive tissues from pinealectomized rats.

Glut1 deficiency

From Molecular Mechanisms to Clinical Implications. Regulation of expression of glucose transporters by glucose: Vestri S, Machado UF. Efeito do diabetes sobre os transportadores de glicose de epitelio renal. Ubiratan Fabres Machado Av. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Deficirncia License. Services on Demand Journal. How to cite this article.