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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Glut1 deficiency

Physiol Rev ; Structure and function of mammalian facultative sugar transporters. Individuals with the disorder generally have frequent seizures epilepsy beginning in the first months of life. N Engl J Med ; Horm Metab Res ; In the majority of cases the disease is associated with de novo mutations in the SLC2A1 gene. Therapies and rehabilitative services are beneficial since most Glut1 Deficiency patients experience movement disturbances as well as speech and language disorders.

Check this box if you wish to receive a copy of your message. InfancyNeonatal ICD Triheptanoin C7 oila triglyceride oil synthesized from castor beans. Retrieved 19 June Annu Rev Physiol ; Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglcyrrachia, seizures, and developmental delay.


Once diagnosed, a ketogenic diet is usually recommended as it helps to control seizures. Am J Nephrol ;4: Extensive studies have been conducted to assess the role of GLUT4 in changes related to insulin sensitiveness, such as diabetes mellitus type 2 DM2.

Most seizures in Glut1 Deficiency patients are not easily treated with anti-seizure medications. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License.

Summary Epidemiology The prevalence is unknown.

Orphanet: Encefalopat a por deficiencia de GLUT1

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. 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, ataxiadystoniadysarthriaopsoclonusspasticityand other paroxysmal neurologic phenomena.

Diabetes Care ; Only comments written in English can be processed. Immuno-localization of the insulin regulatable glucose transporter in brown adipose tissue of the rat. By using this site, you agree to the Terms of Use and Privacy Policy.

Fine motor deficits may affect speech quality and manipulative skills, such as writing. The ketogenic diet causes the body to go into ketosis, which causes a build up of ketones in the blood stream. Mol Genet ; The effect of adipose cell size on the measurement of GLUT 4 in white adipose tissue of obese mice. Machado UF, Saito M. Ketone bodies are transported across the blood-brain barrier by other means than the Glut1 protein and thus may serve as an alternative fuel for the brain when glucose is not available.


Annu Rev Biochem ; Physiol Behav ; J Biol Chem ; For all other comments, please send your remarks via contact us. Symptoms appear between the age ddficiencia 1 and 4 months, following a normal birth and gestation.

Arch Pediatr in French.

J Bacteriol ; Vestri S, Machado UF. Ketone esters are synthetic ketones that break down into natural ketones when metabolized. Multiple roles of phosphatidylinositol 3-kinase in regulation of glucose transport, amino acid transport, and glucose transporters in L6 skeletal muscle cells.

Retrieved from ” https: It should only be used under the care of medical professionals and dietitians, and it may take some time to establish the ideal ratio and other diet variables for each individual patient to experience optimal tolerance and benefits.