GLUT4 glucose transporter deficiency increases hepatic lipid production and peripheral lipid utilization Ko Kotani, 1 Odile D. Peroni, 1 Yasuhiko Minokoshi, 1,2 Olivier Boss, 1 and Barbara B. Kahn 1. 1 Division of Endocrinology, Diabetes and Metabolism, Department of Medicine,


Nearly 90% of patients with glucose transporter type 1 deficiency syndrome (Glut1 DS; figure) have paroxysmal or constant gait abnormalities, including ataxic, spastic, ataxic-spastic, and dystonic gait.1,2 We report 3 cases of genetically proven Glut1 DS (table) demonstrating a distinctive paroxysmal gait disorder triggered by exertion or fasting, herein named “criss-cross gait” (video 1).

GLUT-1 deficiency causes impaired glucose transport into the brain and erythrocytes and is a cause of seizures and progressive neurological disease in children. The cerebrospinal fluid shows low glucose concentrations (hypoglycorrhachia) to approximately 33% of the blood glucose concentration (normal 67%). Summary. Glucose transporter type 1 deficiency syndrome (Glut1DS) is a rare genetic metabolic disorder characterized by deficiency of a protein that is required for glucose (a simple sugar) to cross the blood-brain barrier and other tissue barriers. The most common symptom is seizures (epilepsy), which usually begin within the first few months of 45 rows Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification.

Glucose transporter deficiency

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The clinical condition is caused by impaired glucose transport across the blood brain barrier. What is Glut1 Deficiency? Glucose Transporter Protein Type 1 Deficiency Syndrome It's a rare genetic condition that impairs brain metabolism. Glucose isn’t transported properly into the br ​ ain, which creates energy issues and prevents it from growing, developing, and functioning the way it should. Deficiency of the secondary active sodium/glucose transporters result in glucose/galactose malabsorption or congenital renal glycosuriäGLUT1 deficiency produces a seizure disorder with low glucose concentration in cerebrospinal fluid and GLUT2 deficiency is the basis of the Fanconi–Bickel syndrome, which resembles type I glycogen storage disease.

They are enzyme proteins that can also transport galactose and fructose, in addition to glucose.

termine the level of nutrient intake that would prevent deficiency disor- ders. Certain coupled with sodium (glucose transporter, GLUT 2), whereas fructose is.

Tests displaying the status “New York Approved: Yes” are approved or conditionally approved by New York State and do not require an NYS “NPL” exemption. Please note Presentation of GLUT1 Transporter Deficiency.

Glucose Transporter Type I Deficiency (G1D) at 25 (1990-2015): Presumptions, Facts, and the Lives of Persons With This Rare Disease Juan M. Pascual & Gabriel M. Ronen

Glucose transporter deficiency

The main pathophysiological mechanism of Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome impaired glucose transport into brain-A review. Eur J Pediatr. 161: 295-304.

Glucose transporter deficiency

Primary defects in glucose transport all appear to be extremely rare and not all possible deficiencies have been identified. • GLUT1 deficiency syndrome is a metabolic disorder due to defective transport of glucose across the blood-brain barrier.

Glucose transporter deficiency

2020-07-21 · Glucose transporters in the GLUT family use facilitative diffusion to transport glucose across the plasma membrane. They are enzyme proteins that can also transport galactose and fructose, in addition to glucose. GLUTs are expressed in a wide variety of cells, from red blood cells to liver to the brain. Glucose transporter type 1 deficiency syndrome (GLUT1DS) causes central nervous system dysfunction including intractable epilepsy caused by impaired glucose transport to the brain.

Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain-- a review. Klepper J, Voit T. Eur J Pediatr, 161(6):295-304, 16 Apr 2002 Cited by: 87 articles | PMID: 12029447.
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Glucose transporter type1 (GLUT-1) deficiency may be rare, but it is a preventable cause of severe learning difficulties; and therefore there is an urgency in making an early diagnosis. Suspicions must be roused when intractable seizures occur in infancy. These may be associated with acquired microcephaly and developmental delay.

Description. GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms. Approximately 90 percent of affected individuals have a form of the disorder often referred to as common GLUT1 deficiency syndrome. These individuals generally have frequent seizures (epilepsy) beginning in the first months of life. Glucose Transporter Type 1 Deficiency Syndromealso known as Glut1DS, G1D, De Vivo Disease.

Feb 2, 2010 Introduction. Glucose transporter-1 (GLUT1) deficiency syndrome (OMIM # 606777) is an autosomal dominant haplo-insufficiency disorder, 

Glucose transporter type 1 deficiency is caused by mutations of the SLC2A1 gene which is most frequented inherited as an autosomal dominant (the gene is located on one of the nonsex chromosomes of either parent and 50% of the children will be affected). Sometimes it results sporadically from a spontaneous genetic change (not inherited) for no reason. Inclusion Criteria: - Diagnosis of glucose transporter type I deficiency (G1D), confirmed by clinical genotyping at a CLIA-certified laboratory or by PET scan. - Stable diet on no dietary therapy (i.e., no dietary therapy for 1 month). - Males and females 30 months to 17 years 11 months old, inclusive. • GLUT1 deficiency syndrome is a metabolic disorder due to defective transport of glucose across the blood-brain barrier.

ICD-10: G93.4 ORPHA: 71277 General information Estimated occurrence Very rare. Cause Glucose transporter protein type 1-deficiency is caused by the transport of glucose into the brain being reduced due to a disturbance in the brain’s energy turnover. 2010-02-02 Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a treatable metabolic disorder caused by mutation in the SLC2A1 gene. The functional deficiency of the GLUT1 protein leads to impaired glucose transport into the brain, resulting in a spectrum of neurological phenotypes. 2020-01-01 A critical defect in type 2 diabetes is impaired insulin-stimulated glucose transport and metabolism in muscle and adipocytes. To understand the metabolic adaptations this elicits, we generated mice with targeted disruption of the GLUT4 glucose transporter in both adipocytes and muscle (AMG4KO). The pattern of expression of the GLUT transporters in different tissues is related to the different roles of glucose metabolism in different tissues.