Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain – a review

2002 ◽  
Vol 161 (6) ◽  
pp. 295-304 ◽  
Author(s):  
Jörg Klepper ◽  
Thomas Voit
Keyword(s):  
Glucose Transport ◽  
Glucose Transporter ◽  
Deficiency Syndrome ◽  
Transporter Protein ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome

Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome

Blood ◽  
2011 ◽  
Vol 118 (19) ◽  
pp. 5267-5277 ◽  
Author(s):  
Joanna F. Flatt ◽  
Hélène Guizouarn ◽  
Nicholas M. Burton ◽  
Franck Borgese ◽  
Richard J. Tomlinson ◽  
...  
Keyword(s):  
Glucose Transporter ◽  
Deficiency Syndrome ◽  
Glucose Transporter 1 ◽  
3 Dimensional ◽  
Transporter Protein ◽  
Expression Studies ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome ◽  
Reticulocyte Maturation ◽  
Exercise Induced

Abstract The hereditary stomatocytoses are a series of dominantly inherited hemolytic anemias in which the permeability of the erythrocyte membrane to monovalent cations is pathologically increased. The causative mutations for some forms of hereditary stomatocytosis have been found in the transporter protein genes, RHAG and SLC4A1. Glucose transporter 1 (glut1) deficiency syndromes (glut1DSs) result from mutations in SLC2A1, encoding glut1. Glut1 is the main glucose transporter in the mammalian blood-brain barrier, and glut1DSs are manifested by an array of neurologic symptoms. We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, seizures, mental retardation, and movement disorder. We now show that sdCHC is associated with mutations in SLC2A1 that cause both loss of glucose transport and a cation leak, as shown by expression studies in Xenopus oocytes. On the basis of a 3-dimensional model of glut1, we propose potential mechanisms underlying the phenotypes of the 2 mutations found. We investigated the loss of stomatin during erythropoiesis and find this occurs during reticulocyte maturation and involves endocytosis. The molecular basis of the glut1DS, paroxysmal exercise-induced dyskinesia, and sdCHC phenotypes are compared and discussed.

scholarly journals Classic Ketogenic Diet and Modified Atkins Diet in SLC2A1 Positive and Negative Patients with Suspected GLUT1 Deficiency Syndrome: A Single Center Analysis of 18 Cases

Nutrients ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 840
Author(s):  
Jana Ruiz Herrero ◽  
Elvira Cañedo Villarroya ◽  
Luis González Gutiérrez-Solana ◽  
Beatriz García Alcolea ◽  
Begoña Gómez Fernández ◽  
...  
Keyword(s):  
Movement Disorder ◽  
Glucose Transporter ◽  
Deficiency Syndrome ◽  
Laboratory Assessment ◽  
Modified Atkins Diet ◽  
Atkins Diet ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome ◽  
The Impact

Background: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is caused by mutations in the SLC2A1 gene and produces seizures, neurodevelopmental impairment, and movement disorders. Ketogenic dietary therapies (KDT) are the gold standard treatment. Similar symptoms may appear in SLC2A1 negative patients. The purpose is to evaluate the effectiveness of KDT in children with GLUT1DS suspected SLC2A1 (+) and (-), side effects (SE), and the impact on patients nutritional status. Methods: An observational descriptive study was conducted to describe 18 children (January 2009–August 2020). SLC2A1 analysis, seizures, movement disorder, anti-epileptic drugs (AEDS), anthropometry, SE, and laboratory assessment were monitored baseline and at 3, 6, 12, and 24 months after the onset of KDT. Results: 6/18 were SLC2A1(+) and 13/18 had seizures. In these groups, the age for debut of symptoms was higher. The mean time from debut to KDT onset was higher in SLC2A1(+). The modified Atkins diet (MAD) was used in 12 (5 SLC2A1(+)). Movement disorder improved (4/5), and a reduction in seizures >50% compared to baseline was achieved in more than half of the epileptic children throughout the follow-up. No differences in effectiveness were found according to the type of KDT. Early SE occurred in 33%. Long-term SE occurred in 10, 5, 7, and 5 children throughout the follow-up. The most frequent SE were constipation, hypercalciuria, and hyperlipidaemia. No differences in growth were found according to the SLC2A1 mutation or type of KDT. Conclusions: CKD and MAD were effective for SLC2A1 positive and negative patients in our cohort. SE were frequent, but mild. Permanent monitoring should be made to identify SE and nutritional deficits.

Differential regulation of glucose transporter isoforms by the src oncogene in chicken embryo fibroblasts

1991 ◽  
Vol 11 (9) ◽  
pp. 4448-4454
Author(s):  
M K White ◽  
T B Rall ◽  
M J Weber
Keyword(s):  
Glucose Transport ◽  
Chicken Embryo ◽  
Glucose Transporter ◽  
Sequence Similarity ◽  
Transporter Protein ◽  
Mrna Induction ◽  
Embryo Fibroblasts ◽  
Type 3 ◽  
Chicken Embryo Fibroblasts

The increase in glucose transport that occurs when chicken embryo fibroblasts (CEFs) are transformed by src is associated with an increase in the amount of type 1 glucose transporter protein, and we have previously shown that this effect is due to a decrease in the degradation rate of this protein. The rate of CEF type 1 glucose transporter biosynthesis and the level of its mRNA are unaffected by src transformation. To study the molecular basis of this phenomenon, we have been isolating chicken glucose transporter cDNAs by hybridization to a rat type 1 glucose transporter probe at low stringency. Surprisingly, these clones corresponded to a message encoding a protein which has most sequence similarity to the human type 3 glucose transporter and which we refer to as CEF-GT3. CEF-GT3 is clearly distinct from the CEF type 1 transporter that we have previously described. Northern (RNA) analysis of CEF RNA with CEF-GT3 cDNA revealed two messages of 1.7 and 3.3 kb which were both greatly induced by src transformation. When the CEF-GT3 cDNA was expressed in rat fibroblasts, a three-to fourfold enhancement of 2-deoxyglucose uptake was observed, indicating that CEF-GT3 is a functional glucose transporter. Northern analyses using a CEF-GT3 and a rat type 1 probe demonstrated that there is no hybridization between different isoforms but that there is cross-species hybridization between the rat type 1 probe and the chicken homolog. Southern blot analyses confirmed that the chicken genomic type 1 and type 3 transporters are encoded by distinct genes. We conclude that CEFs express two types of transporter, type 1 (which we have previously reported to be regulated posttranslationally by src) and a novel type 3 isoform which, unlike type 1, shows mRNA induction upon src transformation. We conclude that src regulates glucose transport in CEFs simultaneously by two different mechanisms.

Glucose Transporter-1 (GLUT1) Deficiency Syndrome: Diagnosis and Treatment in Late Childhood

2012 ◽  
Vol 43 (03) ◽  
pp. 168-171 ◽  
Author(s):  
Gwendolyn Gramer ◽  
Nicole Wolf ◽  
Daniel Vater ◽  
Thomas Bast ◽  
René Santer ◽  
...  
Keyword(s):  
Glucose Transporter ◽  
Deficiency Syndrome ◽  
Diagnosis And Treatment ◽  
Late Childhood ◽  
Glucose Transporter 1 ◽  
Syndrome Diagnosis ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome

Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro

2003 ◽  
Vol 162 (2) ◽  
pp. 84-89 ◽  
Author(s):  
Jörg Klepper ◽  
Anne Flörcken ◽  
Jorge Fischbarg ◽  
Thomas Voit
Keyword(s):  
Glucose Transport ◽  
Deficiency Syndrome ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome

Glucose transporter 1 (GLUT1) deficiency syndrome

2015 ◽  
Vol 08 (01) ◽  
pp. 107-108
Author(s):  
Jörg Klepper
Keyword(s):  
Glucose Transporter ◽  
Deficiency Syndrome ◽  
Glucose Transporter 1 ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome

scholarly journals A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome

2015 ◽  
Vol 58 (5) ◽  
pp. 845-853 ◽  
Author(s):  
Eunice E. Lee ◽  
Jing Ma ◽  
Anastasia Sacharidou ◽  
Wentao Mi ◽  
Valerie K. Salato ◽  
...  
Keyword(s):  
Protein Kinase C ◽  
Protein Kinase ◽  
Glucose Transport ◽  
Deficiency Syndrome ◽  
Phosphorylation Motif ◽  
Kinase C ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome

Glut1 Deficiency Syndrome and Diabetes Mellitus Type 1: Review of the Literature and Presentation of a New Case

2021 ◽  
Author(s):  
A. Schönlaub ◽  
A. Höller ◽  
S. Hofer ◽  
E. Haberlandt ◽  
D. Karall ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Deficiency Syndrome ◽  
Diabetes Mellitus Type 1 ◽  
Diabetes Mellitus Type ◽  
Review Of The Literature ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome

scholarly journals Differential regulation of glucose transporter isoforms by the src oncogene in chicken embryo fibroblasts.

1991 ◽  
Vol 11 (9) ◽  
pp. 4448-4454 ◽  
Author(s):  
M K White ◽  
T B Rall ◽  
M J Weber
Keyword(s):  
Glucose Transport ◽  
Chicken Embryo ◽  
Glucose Transporter ◽  
Sequence Similarity ◽  
Transporter Protein ◽  
Mrna Induction ◽  
Embryo Fibroblasts ◽  
Type 3 ◽  
Chicken Embryo Fibroblasts

The increase in glucose transport that occurs when chicken embryo fibroblasts (CEFs) are transformed by src is associated with an increase in the amount of type 1 glucose transporter protein, and we have previously shown that this effect is due to a decrease in the degradation rate of this protein. The rate of CEF type 1 glucose transporter biosynthesis and the level of its mRNA are unaffected by src transformation. To study the molecular basis of this phenomenon, we have been isolating chicken glucose transporter cDNAs by hybridization to a rat type 1 glucose transporter probe at low stringency. Surprisingly, these clones corresponded to a message encoding a protein which has most sequence similarity to the human type 3 glucose transporter and which we refer to as CEF-GT3. CEF-GT3 is clearly distinct from the CEF type 1 transporter that we have previously described. Northern (RNA) analysis of CEF RNA with CEF-GT3 cDNA revealed two messages of 1.7 and 3.3 kb which were both greatly induced by src transformation. When the CEF-GT3 cDNA was expressed in rat fibroblasts, a three-to fourfold enhancement of 2-deoxyglucose uptake was observed, indicating that CEF-GT3 is a functional glucose transporter. Northern analyses using a CEF-GT3 and a rat type 1 probe demonstrated that there is no hybridization between different isoforms but that there is cross-species hybridization between the rat type 1 probe and the chicken homolog. Southern blot analyses confirmed that the chicken genomic type 1 and type 3 transporters are encoded by distinct genes. We conclude that CEFs express two types of transporter, type 1 (which we have previously reported to be regulated posttranslationally by src) and a novel type 3 isoform which, unlike type 1, shows mRNA induction upon src transformation. We conclude that src regulates glucose transport in CEFs simultaneously by two different mechanisms.

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