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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Orphanet: Encefalopatia por deficiencia de GLUT1

Nature Lond ; Fine motor deficits may affect speech quality and manipulative skills, such as writing. De Vivo’s syndrome, described 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.

Regulation of glucose-transporter function. European Journal of Paediatric Neurology. Braz J Med Ed Res ; Immuno-localization of the insulin regulatable glucose transporter in brown adipose tissue of the rat.

Glut1 deficiency

GLUT1 deficiencyalso known as De Vivo diseaseis an autosomal dominantgenetic metabolic disorder associated with a deficiency of GLUT1the protein that transports glucose across the blood brain barrier [1] also known as Glucose transporter type 1 deficiency syndrome GLUT1-DS. Seizure frequency is variable and a history of decreasing frequency deficienciq times of ketosis may prompt a diagnosis. Therapies and rehabilitative services are beneficial since most Glut1 Deficiency patients experience movement disturbances as well as speech and language disorders.

These abnormalities may be constant or intermittent paroxysmal.


Regulation of expression of glucose transporters by glucose: In obesity, the GLUT4 content is not diminished providing that insulin sensitiveness is preserved. Physiopathological changes in glucose transport started to be analysed through transporters with a view to future preventive or therapeutic approaches.

University of Washington, Seattle. Only comments written in Ce can be processed. Cognitive deficits range from subtle learning difficulties to defiiencia intellectual disabilities.

Mol Genet df Decreased expression of glucose transporter in muscle from insulin-resistant patients. Molecular physiology of glucose transporters. Retrieved 10 October Health care resources for this disease Expert centres Diagnostic tests 77 Patient organisations 43 Orphan drug s 1. Glucose transporter in insulin sensitive tissues of lean and obese mice. Comparison of kinetic parameters. Multiple roles of phosphatidylinositol 3-kinase in regulation of glucose transport, amino acid transport, and glucose transporters in L6 skeletal muscle cells.

Horm Metab Deficiendia ; Genetic counseling GLUT1 deficiency syndrome is transmitted as an autosomal dominant trait and in these cases the affected parent presents with a defidiencia form of the disease. Extensive studies have been conducted to assess the role of GLUT4 in changes related to insulin sensitiveness, such as diabetes mellitus type 2 DM2.

Ketone esters are synthetic ketones that break down into natural ketones when metabolized. Nucleotide sequence of putP, the proline carrier of Escherichia coli K The material is in no way intended to replace professional medical care by a qualified specialist and should not deiciencia used as a basis for diagnosis or treatment. Walking may be delayed or difficult because legs are stiff spasticitybalance is poor ataxia or posture is twisted dystonia.


N Engl J Med ; Services on Demand Journal. A multifaceted syndrome responsible for NIDDM, obesity, hypertension, dyslipidemia, and atherosclerotic cardiovascular disease.

Infants with GLUT1 deficiency syndrome have a normal head size at birth, but the growth of the brain and skull is slow, in severe cases resulting in an abnormally small head size. Cloning sequence, and expression of the pantothenate permease panF gene of Escherichia coli.

J Clin Invest ; Retrieved 19 June Cloning of a human cDNA with similarity to the sodium-glucose cotransporter. Views Read Edit View hlut1. From Wikipedia, the free encyclopedia.

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. Mammaliam facilitative glucose transporters: Nature Lond ; Loss of weight restores GLUT 4 content in insulin-sensitive tissues of monosodium glutamate-treated obese mice. Am J Physiol ; The disease causes infantile seizures refractory to anticonvulsive drugs, developmental delay, acquired microcephaly and neurologic manifestations including spasticity, hypotonia, and ataxia.

Most seizures in Glut1 Deficiency patients are not easily treated with anti-seizure medications. The ketogenic diet must be carefully crafted and tailored to meet the needs of each patient and reduce the risk of side effects.

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