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.
|Published (Last):||11 April 2004|
|PDF File Size:||8.67 Mb|
|ePub File Size:||20.46 Mb|
|Price:||Free* [*Free Regsitration Required]|
Fine motor deficits may affect speech quality and manipulative skills, such as writing. How to cite this article. Biochem J ; Strong Areas include receptive ddficiencia or understanding, social skills, fun-loving and empathetic personalities, perseverance. 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.
Archived from the original PDF on Am J Physiol ; Decreased glucose transporter GLUT 4 content deficlencia insulin-sensitive defociencia of obese aurothioglucose- and monosodium glutamate-treated mice.
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. 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.
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. Additional information Further information on this disease Classification s 3 Gene s 1 Defidiencia signs and symptoms Other website s 3.
The ketogenic diet causes the body to go into ketosis, which causes a build up of ketones in the blood stream.
Int J Obes ; Annu Rev Biochem ; Diagnostic methods Diagnosis is based on the clinical picture and biochemical analysis of the cerebrospinal fluid CSF. Close genetic linkage between HLA and renal glycosuria. Glucose transporter type 1 GLUT1 deficiency syndrome is characterized by an encephalopathy marked dfficiencia 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.
Ketone esters are synthetic ketones that break down into natural ketones when metabolized. Symptoms appear between deficiecia age of 1 and 4 months, following a normal birth and gestation.
Extensive studies have been conducted to assess the role of GLUT4 in changes related to insulin sensitiveness, such as diabetes mellitus type 2 DM2. A topologia dos transportadores de glicose GLUTs inicialmente proposta por Mueckler e cols 2 para o GLUT 1, e posteriormente confirmada para deficienciw outras isoformas 12e pode ser vista na Figura 1. Individuals with the disorder generally have frequent seizures epilepsy beginning in the first months of life.
Cloning and functional expresssion in bacteria of a novel glucose deifciencia present in liver, intestine, kidney, and B-pancreatic islet cells. N Engl J Med ; InfancyNeonatal ICD While the classic ketogenic diet is commonly used for younger children, compliance with dde ketogenic diet can be difficult for older children and adults. A multifaceted syndrome responsible for NIDDM, obesity, hypertension, dyslipidemia, and atherosclerotic cardiovascular disease.
In the majority of cases the disease is associated with de novo mutations in the SLC2A1 gene. Early diagnosis is crucial in order to initiate treatment during the deficiemcia early stages of brain development. There is growing empirical evidence that these diets can provide at least some of the benefits of the classical ketogenic diet for some Glut1 Deficiency patients. It is plausible to propose that the modulation of GLUT4 is triggered by a combination of factors indicating cellular sensitiveness to insulin.
Comparison of kinetic parameters. Quantification deficienciaa GLUT4 transporter in insulin-sensitive tissues from pinealectomized rats.
Retrieved from ” https: Tese – Mestrado -Escola Paulista de Medicina. Often speech and language are impaired. The disease causes infantile seizures refractory to anticonvulsive drugs, developmental delay, acquired microcephaly and neurologic manifestations including spasticity, hypotonia, and ataxia.
Orphanet: Encefalopatia por deficiencia de GLUT1
Diagnosis is based on the clinical picture and biochemical analysis of the cerebrospinal fluid CSF. Health care resources for this disease Expert centres Diagnostic tests 77 Patient organisations 43 Orphan drug s 1. Sociability with peers, however, is a strength in Glut1 Blut1 patients.
In recent years, the Modified Atkins Diet, and to a limited extent, MCT oil based diets, have gained increasing acceptance among doctors treating these groups.
Summary and related texts.
Sequence and structure of a human glucose transporter. Jackowski S, Alix JH. De Vivo disease has an autosomal dominant pattern of inheritance.
Only comments written in English can be processed. Nucleotide sequence of putP, the proline carrier of Escherichia coli K Summary Epidemiology The prevalence is unknown. Arch Pediatr in French.
Machado UF, Saito M.