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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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The documents contained in this web site are presented for information purposes only. Evidence for a family of dediciencia glucose transporter-like proteins. Machado UF, Saito M. It is plausible to propose that the modulation of GLUT4 is triggered by a combination of factors indicating cellular sensitiveness to insulin.

Ketone esters are synthetic ketones that break down into natural ketones when metabolized. Professionals Emergency guidelines Englishpdf Clinical genetics review English deficiencis In Adam, Margaret P. Ubiratan Fabres Machado Av.

All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. European Journal of Paediatric Neurology. From Deficiendia Mechanisms to Clinical Implications.

While the classic ketogenic diet is commonly used for younger children, compliance with the ketogenic diet can be difficult for older children and adults.

J Clin Invest ; How to cite this article. Often speech and language are impaired. Dficiencia Genet ; Some symptoms may be present all the time like walking difficultieswhile other signs may come and go like seizures or poor balance.

Efeito do diabetes sobre os transportadores de glicose de epitelio renal. Glucose transporter in insulin sensitive tissues of lean and obese mice. The Metabolic Basis of Inherited Diseases. Extensive studies have been conducted to assess the role of GLUT4 in changes related to insulin sensitiveness, such as diabetes mellitus type 2 DM2.


In obesity, the GLUT4 content is deficincia diminished providing that insulin sensitiveness is preserved.

In the majority of cases the disease is associated with de novo mutations in the SLC2A1 gene. Fine motor deficits may affect speech quality and manipulative skills, such as writing.

Transportadores de glicose

Reduced content and preserved translocation of glucose transporter GLUT 4 in white adipose tissue of obese mice. The ketogenic diet causes the body deficienvia go into ketosis, which causes a build up of ketones in the blood stream. Pascual is moving forward with trials for triheptanoin, or C7 oil, to see if it will help those with Glut1 deficiency by providing an alternative fuel source to the brain.

Am J Nephrol ;4: Sociability with peers, however, is a strength in Glut1 Deficiency patients. Regulation of glucose-transporter function. Glut1 deficiency is characterized by an array of signs and symptoms including deceleration of head growth also known as microcephalymental and motor developmental delays, infantile seizures refractory to anticonvulsants, ataxiagluy1dysarthriaopsoclonusspasticity ed, and other paroxysmal neurologic phenomena.

Current Management and Future Approaches”. Int J Obes ; Physiopathological changes in glucose transport started to be analysed through transporters with a view to future preventive or therapeutic approaches. Cloning sequence, and expression of the pantothenate permease panF gene of Escherichia coli. Health care resources deficienncia this disease Expert centres Diagnostic tests 77 Patient organisations 43 Orphan drug s 1.

Early diagnosis is crucial in order deficieencia initiate treatment during the important early stages of brain development. Diabetes Care ; J Biol Chem ; Services on Demand Journal.


Glut1 deficiency

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis deficiencai diagnosis or treatment. In familial renal glycosuria, the participation of SGLT2 and SGLT1 seems deficiejcia be fundamental, either by loss of transport capacity or by decrease in the transporter affinity. Decreased glucose transporter GLUT 4 content in insulin-sensitive tissues of obese aurothioglucose- and monosodium glutamate-treated mice.

Disease definition Glucose transporter type 1 GLUT1 deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals.

N Engl J Med ; Quantification of GLUT4 transporter in insulin-sensitive tissues from pinealectomized rats. Decreased expression of glucose transporter in muscle from insulin-resistant patients.

Immuno-localization of the insulin regulatable glucose transporter in brown adipose tissue of the rat. These studies have revealed that, in DM2, the GLUT4 content is drastically reduced, playing an important role in insulin resistance. Diabetes Care ; Archived from the original PDF on InfancyNeonatal ICD To make a proper diagnosis, it is important to know the various symptoms of Glut1 Deficiency and how those symptoms evolve with age. Retrieved 10 October Check this box if you wish to receive a copy of your message.