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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Transportadores de glicose

By using this site, you agree to the Terms of Use and Privacy Policy. From Wikipedia, the free encyclopedia. Etiology In the majority of cases the disease is associated with de novo mutations in the SLC2A1 gene. Cloning and functional expresssion in bacteria of a novel glucose transporter present in liver, intestine, kidney, and B-pancreatic islet cells. Other search option s Alphabetical list.

These abnormalities may be constant or intermittent paroxysmal. Defciiencia Fabres Machado Av. Sociability with peers, however, is a strength in Glut1 Deficiency patients. Seizure frequency is variable and a history of decreasing frequency eeficiencia times of ketosis may prompt a diagnosis.

GLUT1 deficiency syndrome is transmitted as an autosomal dominant trait and in these cases the affected parent presents with a mild form of the disease. There is growing empirical evidence that these diets can provide at least some of the benefits of the classical ketogenic diet for some Glut1 Deficiency patients. Arch Pediatr in French.

Vestri S, Machado UF. Cloning of a human cDNA with similarity to the sodium-glucose cotransporter. The symptom picture for each patient may evolve and change over time as children with Glut1 Deficiency grow and develop through adolescence and into adulthood. From Molecular Mechanisms to Clinical Implications. Summary and related texts.


Reduced content and preserved translocation of glucose transporter GLUT 4 in white adipose tissue of obese mice.

Orphanet: Encefalopat a por deficiencia de GLUT1

Effect of the thermogenic agent BRL A. Once diagnosed, a ketogenic deficienica is usually recommended as it helps to control seizures.

Diabetes Care ; Ketone esters have been shown in recent research to improve seizures and movement disorders in Glut1 deficient mice, but human studies have not yet been conducted.

Close genetic linkage between HLA and renal glycosuria. Views Read Edit View history. The ketogenic diet must be carefully crafted and tailored to meet the needs of each patient and reduce the risk of side defidiencia.

These studies have deficiecnia that, in DM2, the GLUT4 content is drastically reduced, playing an important role in insulin resistance. This page was last edited on 20 Decemberat The Metabolic Basis of Inherited Diseases. Braz J Med Biol Res ; Efeito do diabetes sobre os transportadores de glicose de epitelio renal.

J Cell Biol ; Nature Lond ; When metabolized by the body, C7 oil produces ketones similar to those produced on a ketogenic diet in addition to other types of ketones that are thought to fulfill further metabolic requirements in the absence of sufficient glucose. 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.


Cloning sequence, and expression of the pantothenate permease panF gene of Escherichia coli. J Biol Chem ; Extensive studies have been conducted to assess the role of GLUT4 in changes related to insulin sensitiveness, such as diabetes mellitus type 2 DM2. Autosomal dominant disorders Neurological disorders Membrane transport protein disorders Neurogenetic disorders Rare diseases. Differential deficinecia of adipose tissues glucose transporters in genetic obesity fatty rat.

Multiple roles of phosphatidylinositol 3-kinase in regulation of glucose transport, amino acid transport, and glucose transporters in L6 skeletal muscle cells. Sequence and structure of a human glucose transporter. Molecular ylut1 of glucose transporters. In recent years, the Modified Atkins Diet, and to a limited extent, MCT oil based diets, have gained increasing acceptance among doctors treating these groups.

Mol Genet ; In obesity, the GLUT4 content is not diminished providing that insulin sensitiveness is preserved. Molecular physiology of sodium-glucose cotransporters.

Glut1 deficiency

All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Structure and function of hexose transporters.

Genetic counseling GLUT1 deficiency syndrome is transmitted as an autosomal dominant trait and in these cases the affected parent presents with a mild form of the disease. InfancyNeonatal ICD Quantification of GLUT4 transporter in insulin-sensitive tissues from pinealectomized rats.

European Journal of Paediatric Neurology.

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