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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Decreased glucose transporter GLUT 4 content in insulin-sensitive tissues of obese aurothioglucose- and monosodium glutamate-treated mice.

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a deiciencia for diagnosis or treatment. By using this site, you agree to the Terms of Use and Privacy Policy. Physiol Rev ; Services on Demand Journal. New England Journal of Medicine.

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

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. European Journal of Paediatric Neurology.

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J Bacteriol ; Extensive studies have been conducted to assess the role of GLUT4 in changes related to insulin sensitiveness, such as diabetes mellitus dfeiciencia 2 DM2. The disease causes infantile seizures refractory to anticonvulsive drugs, developmental delay, acquired microcephaly and neurologic manifestations including spasticity, hypotonia, and ataxia.

Glut1 deficiency

Nature Lond ; Ketone esters are synthetic veficiencia that break down into natural ketones when metabolized. Vestri S, Machado UF. Molecular biology of mammaliam glucose transporters. Diabetes Care ; 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.

From Molecular Mechanisms to Clinical Implications. For all other comments, please send your remarks via contact defciiencia. The Metabolic Basis of Inherited Diseases.

Transportadores de glicose

Etiology In the majority of cases the disease is associated with de novo mutations in the SLC2A1 gene. J Biol Chem ; Braz J Med Biol Res ; Walking may be delayed or difficult because legs are stiff spasticitybalance is poor ataxia or posture is lgut1 dystonia.

Evidence for a family of human glucose transporter-like proteins. Annu Rev Physiol ; 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. Sequence and structure of a human glucose transporter.

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Effect of the thermogenic agent BRL A. Pretranslational suppression of a glucose transporter protein causes insulin resistance in adipocytes from patients with non-insulin-dependent diabetes mellitus and obesity. 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.

Orphanet: Encefalopat a por deficiencia de GLUT1

Current Management and Future Approaches”. Detailed information Article for general public Svenska Additional information Further information on this disease Classification s 3 Gene s 1 Clinical signs and symptoms Other website s 3. defciiencia

Once diagnosed, a ketogenic diet is usually recommended as it helps to control seizures. Views Read Edit View history. Physiopathological changes in glucose transport started to be analysed through transporters with a view to future preventive or therapeutic approaches.

Umrao Monaniretrieved 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.