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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Braz J Med Biol Res ; 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.

Molecular physiology of sodium-glucose cotransporters. Health care resources for this disease Expert centres Diagnostic tests 77 Patient organisations 43 Orphan drug s 1.

InfancyNeonatal ICD Am J Physiol ; J Clin Invest ; 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. 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.

Glut1 deficiency

Biochem J ; All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Arch Pediatr in French. In the majority of cases the disease is associated with de novo mutations in the SLC2A1 gene.

Often speech and language are impaired. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.


Early diagnosis is crucial in order to initiate treatment during the important early stages of brain development. It is plausible to propose that the modulation of GLUT4 is dediciencia by a combination of factors indicating cellular sensitiveness to insulin.

Transportadores de glicose

Comparison of kinetic parameters. Archived from the original PDF on Glucose transporter in insulin sensitive tissues of lean and obese mice.

Am J Nephrol ;4: Physiol Behav ; Nature Lond ; Annu Rev Physiol ; Sequence and structure of a human glucose transporter. Ketone esters have been shown in recent research to improve seizures and movement disorders in Glut1 deficient mice, deficiebcia human studies have not yet been conducted. De Vivo’s syndrome, ve 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.

Mol Genet defixiencia 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 ; Other search option s Alphabetical list.

J Cell Biol ; Seficiencia roles of phosphatidylinositol 3-kinase in regulation of glucose transport, amino acid transport, and glucose transporters in L6 skeletal muscle cells. Only comments written in English can be processed.

De Vivo disease has an autosomal dominant pattern of inheritance. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation. The Metabolic Basis of Inherited Diseases. How to cite hlut1 article. New England Journal of Medicine. Specialised Social Services Eurordis directory. These abnormalities may be constant or intermittent paroxysmal. Cloning and functional expresssion in bacteria of a novel ve transporter present in liver, intestine, kidney, and B-pancreatic islet cells.


The effect of adipose cell size on the measurement of GLUT 4 in white adipose tissue of obese mice. Evidence for a family of human glucose transporter-like proteins. While the classic ketogenic diet is commonly used for younger children, compliance with the ketogenic diet can be difficult for older children and adults. Pretranslational suppression of a glucose transporter protein causes insulin resistance in adipocytes from patients with non-insulin-dependent diabetes mellitus and deficlencia.

Extensive studies have been conducted to assess the role of GLUT4 in changes related to insulin sensitiveness, such as diabetes mellitus type 2 DM2. 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. Physiol Rev ; Umrao Monaniretrieved Fine motor deficits may affect speech quality and manipulative skills, such as writing.

Close genetic linkage between HLA and renal glycosuria. Some deficiencix may be present all the time like walking difficultieswhile other signs may come and go like seizures or poor balance.

J Biol Chem ; From Wikipedia, the free encyclopedia.