scholarly journals Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic

2017 ◽  
Vol 45 (1) ◽  
pp. 93-96 ◽  
Author(s):  
Stacy Hewson ◽  
Ledia Brunga ◽  
Matilde Fernandez Ojeda ◽  
Elizabeth Imhof ◽  
Jaina Patel ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
Glucose Transporter ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Genetic Disorders ◽  
Copy Number Variants ◽  
Genetic Diagnosis ◽  
Type Ii ◽  
Glucose Transporter 1 ◽  
Congenital Disorder Of Glycosylation ◽  
Glut1 Deficiency

AbstractBetween July of 2012 and December of 2014, 39 patients were enrolled prospectively to investigate the prevalence of glucose transporter 1 (GLUT1) deficiency in a ketogenic diet clinic. None of them had GLUT1 deficiency. All patients seen in the same clinic within the same period were reviewed retrospectively. A total of 18 of these 85 patients had a genetic diagnosis, including GLUT1 deficiency, pathogenic copy number variants, congenital disorder of glycosylation, neuronal ceroid lipofuscinosis type II, mitochondrial disorders, tuberous sclerosis, lissencephaly, and SCN1A-, SCN8A-, and STXBP1-associated epileptic encephalopathies. The prevalence of genetic diagnoses was 21% and prevalence of GLUT1 deficiency was 2.4% in our retrospective cohort study.

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

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 Why should a neuropaediatrician always measure head circumference - a case report of Glucose transporter 1 deficiency syndrome (Glut1-DS)

2020 ◽  
Vol 29 (58) ◽  
pp. 89-91
Author(s):  
Barbara Oleksy ◽  
◽  
Hanna Mierzewska ◽  
Agata Lipiec ◽  
Elżbieta Szczepanik ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
Glucose Transporter ◽  
Motor Coordination ◽  
Deficiency Syndrome ◽  
Psychomotor Development ◽  
Motor Disorders ◽  
Degree Relative ◽  
Glucose Transporter 1 ◽  
Neurometabolic Disorders ◽  
Wide Range

Introduction. The deficit of the type 1 glucose transporter (Glut1-DS) belongs to the neurometabolic disorders that can be effectively treated, in this case with ketogenic diet. By limiting glucose supply to the brain the deficit of glucose transporter 1 leads to cerebral energy deficiency. Glut1-DS manifests with a wide range of neurological symptoms that usually start in early childhood, including cognitive impairment, epilepsy and permanent and/or paroxysmal motor disorders, often provoked by physical activity, fasting or hyperthermale. Aim. We present the case of a 6,5-year-old patient with Glut1- -DS who, despite presenting typical symptoms, remained undiagnosed for years. Family history was positive of intellectual disability in first degree relative. The child suffered from psychomotor development delay, motor coordination difficulties, motor disorders and epilepsy with focal and absence seizures of early onset. However, the significant symptom of secondary microcephaly remained unnoticed for years. Conclusion. Secondary microcephaly is a valuable symptom which can guide towards the diagnosis. The early diagnosis of Glut1 deficiency syndrome enables prompt introduction of the ketogenic diet crucial for the child’s development and improvement of both the patients and their families’ quality of life.

Ketogenic Diet for Other Epilepsies

2016 ◽  
Author(s):  
David T. Hsieh ◽  
Elizabeth A. Thiele
Keyword(s):  
Ketogenic Diet ◽  
Brain Metabolism ◽  
Glucose Transporter ◽  
Dehydrogenase Deficiency ◽  
Genetic Disorders ◽  
Study Group ◽  
Transporter Protein ◽  
Weber Syndrome ◽  
Diet Study ◽  
Sturge Weber Syndrome

The ketogenic diet is the treatment of choice for epilepsy in certain disorders of brain metabolism, in particular glucose transporter protein 1 deficiency and pyruvate dehydrogenase deficiency. The International Ketogenic Diet Study Group has listed several other conditions for which the ketogenic diet has been reported as being particularly beneficial and could be offered earlier. Whether efficacy in these conditions is due in part to the broad-spectrum efficacy of the ketogenic diet or to specific mechanisms specific to these conditions is still under investigation. This chapter discusses the use of dietary therapies for the treatment of epilepsy in certain genetic disorders, including Rett syndrome and tuberous sclerosis complex, as listed by the International Ketogenic Diet Study Group, and additionally discusses the use of epilepsy dietary therapies in patients with Angelman syndrome and Sturge-Weber syndrome.

scholarly journals GLUT1-dependent glycolysis regulates exacerbation of fibrosis via AIM2 inflammasome activation

Thorax ◽  
2019 ◽  
Vol 75 (3) ◽  
pp. 227-236 ◽  
Author(s):  
Soo Jung Cho ◽  
Jong-Seok Moon ◽  
Kiichi Nikahira ◽  
Ha Seon Yun ◽  
Rebecca Harris ◽  
...  
Keyword(s):  
Bacterial Infection ◽  
Acute Exacerbation ◽  
Lung Fibrosis ◽  
Glucose Transporter ◽  
Substantial Reduction ◽  
Inflammasome Activation ◽  
Glucose Transporter 1 ◽  
Altered Glucose ◽  
Glut1 Deficiency ◽  
Fibrotic Lung Diseases

BackgroundIdiopathic pulmonary fibrosis (IPF) is a rapidly progressive, fatal lung disease that affects older adults. One of the detrimental natural histories of IPF is acute exacerbation of IPF (AE-IPF), of which bacterial infection is reported to play an important role. However, the mechanism by which bacterial infection modulates the fibrotic response remains unclear.ObjectivesAltered glucose metabolism has been implicated in the pathogenesis of fibrotic lung diseases. We have previously demonstrated that glucose transporter 1 (GLUT1)-dependent glycolysis regulates fibrogenesis in a murine fibrosis model. To expand on these findings, we hypothesised that GLUT1-dependent glycolysis regulates acute exacerbation of lung fibrogenesis during bacterial infection via AIM2 inflammasome activation.ResultsIn our current study, using a murine model of Streptococcus pneumoniae (S. pneumoniae) infection, we investigated the potential role of GLUT1 on mediating fibrotic responses to an acute exacerbation during bleomycin-induced fibrosis. The results of our current study illustrate that GLUT1 deficiency ameliorates S. pneumoniae-mediated exacerbation of lung fibrosis (wild type (WT)/phosphate buffered saline (PBS), n=3; WT/S. pneumoniae, n=3; WT/Bleomycin, n=5 ; WT/Bleomycin+S. pneumoniae, n=7; LysM-Cre-Glut1fl/f/PBS, n=3; LysM-Cre-Glut1fl/fl/S. pneumoniae, n=3; LysM-Cre-Glut1fl/fl/Bleomycin, n=6; LysM-Cre-Glut1fl/fl/Bleomycin+S. pneumoniae, n=9, p=0.041). Further, the AIM2 inflammasome, a multiprotein complex essential for sensing cytosolic bacterial DNA as a danger signal, is an important regulator of this GLUT1-mediated fibrosis and genetic deficiency of AIM2 reduced bleomycin-induced fibrosis after S. pneumoniae infection (WT/PBS, n=6; WT/Bleomycin+S. pneumoniae, n=15; Aim2−/−/PBS, n=6, Aim2−/−/Bleomycin+S. pneumoniae, n=11, p=0.034). GLUT1 deficiency reduced expression and function of the AIM2 inflammasome, and AIM2-deficient mice showed substantial reduction of lung fibrosis after S. pneumoniae infection.ConclusionOur results demonstrate that GLUT1-dependent glycolysis promotes exacerbation of lung fibrogenesis during S. pneumoniae infection via AIM2 inflammasome activation.

Sign in / Sign up

Export Citation Format

Share Document