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glucose transporter deficiency mri

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https://www.readbyqxmd.com/read/27929465/using-multi-fluorinated-bile-acids-and-in-vivo-magnetic-resonance-imaging-to-measure-bile-acid-transport
#1
Jessica Felton, Kunrong Cheng, Anan Said, Aaron C Shang, Su Xu, Diana Vivian, Melissa Metry, James E Polli, Jean-Pierre Raufman
Along with their traditional role as detergents that facilitate fat absorption, emerging literature indicates that bile acids are potent signaling molecules that affect multiple organs; they modulate gut motility and hormone production, and alter vascular tone, glucose metabolism, lipid metabolism, and energy utilization. Changes in fecal bile acids may alter the gut microbiome and promote colon pathology including cholerrheic diarrhea and colon cancer. Key regulators of fecal bile acid composition are the small intestinal Apical Sodium-dependent Bile Acid Transporter (ASBT) and fibroblast growth factor-19 (FGF19)...
November 27, 2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/26122601/summary-of-recommendations-for-the-management-of-infantile-seizures-task-force-report-for-the-ilae-commission-of-pediatrics
#2
REVIEW
Jo M Wilmshurst, William D Gaillard, Kollencheri Puthenveettil Vinayan, Tammy N Tsuchida, Perrine Plouin, Patrick Van Bogaert, Jaime Carrizosa, Maurizio Elia, Dana Craiu, Nebojsa J Jovic, Doug Nordli, Deborah Hirtz, Virginia Wong, Tracy Glauser, Eli M Mizrahi, J Helen Cross
Evidence-based guidelines, or recommendations, for the management of infants with seizures are lacking. A Task Force of the Commission of Pediatrics developed a consensus document addressing diagnostic markers, management interventions, and outcome measures for infants with seizures. Levels of evidence to support recommendations and statements were assessed using the American Academy of Neurology Guidelines and the Grading of Recommendations Assessment, Development and Evaluation (GRADE) system. The report contains recommendations for different levels of care, noting which would be regarded as standard care, compared to optimal care, or "state of the art" interventions...
August 2015: Epilepsia
https://www.readbyqxmd.com/read/25110966/triheptanoin-for-glucose-transporter-type-i-deficiency-g1d-modulation-of-human-ictogenesis-cerebral-metabolic-rate-and-cognitive-indices-by-a-food-supplement
#3
Juan M Pascual, Peiying Liu, Deng Mao, Dorothy I Kelly, Ana Hernandez, Min Sheng, Levi B Good, Qian Ma, Isaac Marin-Valencia, Xuchen Zhang, Jason Y Park, Linda S Hynan, Peter Stavinoha, Charles R Roe, Hanzhang Lu
IMPORTANCE: Disorders of brain metabolism are multiform in their mechanisms and manifestations, many of which remain insufficiently understood and are thus similarly treated. Glucose transporter type I deficiency (G1D) is commonly associated with seizures and with electrographic spike-waves. The G1D syndrome has long been attributed to energy (ie, adenosine triphosphate synthetic) failure such as that consequent to tricarboxylic acid (TCA) cycle intermediate depletion. Indeed, glucose and other substrates generate TCAs via anaplerosis...
October 2014: JAMA Neurology
https://www.readbyqxmd.com/read/24120063/-clinical-and-genetic-characteristics-of-glucose-transporter-type-1-deficiency-syndrome
#4
Yan-yan Liu, Xin-hua Bao, Shuang Wang, Na Fu, Xiao-yan Liu, Fu-ying Song, Yan-ling Yang, Ye Wu, Yue-hua Zhang, Jian-xin Wu, Yu-wu Jiang, Jiong Qin, Xi-ru Wu
OBJECTIVE: To analyze the clinical and SLC2A1 gene mutation characteristics of glucose transporter type 1 deficiency syndrome. METHOD: The detailed clinical manifestations of six cases were recorded. The laboratory tests including EEG, MRI, blood chemistry, and lumbar puncture were performed. SLC2A1 gene mutations were analyzed by PCR, DNA sequencing and multiplex ligation-dependent probe amplification (MLPA). RESULT: Patient 1, 2 and 3 had classical clinical symptoms including infantile onset seizures, development delay...
June 2013: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/24080273/reversible-white-matter-lesions-during-ketogenic-diet-therapy-in-glucose-transporter-1-deficiency-syndrome
#5
Tadashi Shiohama, Katsunori Fujii, Satoru Takahashi, Fumito Nakamura, Yoichi Kohno
BACKGROUND: Glucose transporter type 1 deficiency syndrome is caused by brain energy failure resulting from a disturbance in glucose transport. PATIENTS: We describe a 4-year-old boy with classical type glucose transporter type 1 deficiency syndrome with a heterozygous splice acceptor site mutation (c.517-2A>G) in the SLCA2A1 gene. RESULTS: We initiated a ketogenic diet at 4 months of age. However, even though his condition was good during ketogenic diet therapy, multiple cerebral white matter and right cerebellum lesions appeared at 9 months of age...
December 2013: Pediatric Neurology
https://www.readbyqxmd.com/read/23838831/decreased-in-vitro-mitochondrial-function-is-associated-with-enhanced-brain-metabolism-blood-flow-and-memory-in-surf1-deficient-mice
#6
Ai-Ling Lin, Daniel A Pulliam, Sathyaseelan S Deepa, Jonathan J Halloran, Stacy A Hussong, Raquel R Burbank, Andrew Bresnen, Yuhong Liu, Natalia Podlutskaya, Anuradha Soundararajan, Eric Muir, Timothy Q Duong, Alex F Bokov, Carlo Viscomi, Massimo Zeviani, Arlan G Richardson, Holly Van Remmen, Peter T Fox, Veronica Galvan
Recent studies have challenged the prevailing view that reduced mitochondrial function and increased oxidative stress are correlated with reduced longevity. Mice carrying a homozygous knockout (KO) of the Surf1 gene showed a significant decrease in mitochondrial electron transport chain Complex IV activity, yet displayed increased lifespan and reduced brain damage after excitotoxic insults. In the present study, we examined brain metabolism, brain hemodynamics, and memory of Surf1 KO mice using in vitro measures of mitochondrial function, in vivo neuroimaging, and behavioral testing...
October 2013: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/23604616/symptomatic-west-syndrome-secondary-to-glucose-transporter-1-glut1-deficiency-with-complete-response-to-4-1-ketogenic-diet
#7
K N Vykuntaraju, Srikanth Bhat, K S Sanjay, M Govindaraju
Glucose transporter type 1 (GLUT-1) deficiency is a rare cause of preventable intellectual disability. Intellectual disability is due to refractory seizures in infancy and reduced supply of glucose to the brain. The authors report a third born male child of consanguineous parentage who presented with infantile spasms. Initially, he had refractory convulsions of focal, generalised, and myoclonic jerks, not responding to multiple anticonvulsants. He also had choreoathetoid movements. On examination he had microcephaly...
September 2014: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/22704013/allelic-variations-of-glut-1-deficiency-syndrome-the-chinese-experience
#8
Yanyan Liu, Xinhua Bao, Dong Wang, Na Fu, Xiaoying Zhang, Guangna Cao, Fuying Song, Shuang Wang, Yuehua Zhang, Jiong Qin, Hong Yang, Kristin Engelstad, Darryl C De Vivo, Xiru Wu
Glucose transporter type 1 deficiency syndrome is characterized by infantile onset seizures, development delay, movement disorders, and acquired microcephaly. The phenotype includes allelic variants such as intermittent ataxia, choreoathetosis, dystonia, and alternating hemiplegia of childhood with or without epilepsy. Dystonias involve allelic variants of glucose transporter type 1 deficiency syndrome. Three Chinese patients presented with paroxysmal behavioral disturbance, weakness, ataxia (especially after fasting), and exercise intolerance...
July 2012: Pediatric Neurology
https://www.readbyqxmd.com/read/22649075/slc2a8-deficiency-in-mice-results-in-reproductive-and-growth-impairments
#9
Katie L Adastra, Antonina I Frolova, Maggie M Chi, Daniel Cusumano, Mary Bade, Mary O Carayannopoulos, Kelle H Moley
SLC2A8, also known as GLUT8, is a facilitative glucose transporter expressed in the testis, brain, liver, heart, uterus, ovary, and fat. In this study we examined the effect of Slc2a8 deficiency on mouse gamete, preimplantation embryo, and implantation phenotype, as well as postnatal growth and physiology. For this model, the transcriptional start site and exons 1-4 were targeted and a lack of protein expression was confirmed by Western immunoblot. Oocytes obtained from Slc2a8(-/-) mice demonstrated abnormal metabolism and ATP production...
August 2012: Biology of Reproduction
https://www.readbyqxmd.com/read/22492876/an-infant-with-pseudohyperkalemia-hemolysis-and-seizures-cation-leaky-glut1-deficiency-syndrome-due-to-a-slc2a1-mutation
#10
Waleed M Bawazir, Evelien F Gevers, Joanna F Flatt, Ai Leen Ang, Benjamin Jacobs, Caroline Oren, Stephanie Grunewald, Mehul Dattani, Lesley J Bruce, Gordon W Stewart
CONTEXT: GLUT1 (glucose transporter 1) deficiency syndrome is a well-known presentation in pediatric practice. Very rare mutations not only disable carbohydrate transport but also cause the red cell membrane to be constitutively permeant to monovalent cations, namely sodium and potassium. OBJECTIVE: The aim of this study was to describe the pediatric presentation of a patient with GLUT1 deficiency with such a cation-leaky state. SUBJECT AND METHODS: The infant presented with erratic hyperkalemia, neonatal hyperbilirubinemia, anemia, hepatic dysfunction, and microcephaly...
June 2012: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/21545677/methylmalonic-acidemia-mimicking-diabetic-ketoacidosis-in-an-infant
#11
A Guven, N Cebeci, A Dursun, Eh Aktekin, Mr Baumgartner, B Fowler
Methylmalonic acidemia (MMA) is an inherited organic acidemia usually present with recurrent episodes of acute illness. A typical episode is ushered in with ketonuria and vomiting, followed by acidosis, dehydration, and lethargy, leading, in the absence of aggressive treatment, to coma and death. We report an infant with MMA presented with diabetes symptoms. A 13-month-old girl complained of polydipsia, diuresis, and loss of weight. She had clinical signs of diabetic ketoacidosis such as dehydration, deep sighing respiration, smell of ketones, lethargy, and vomiting...
September 2012: Pediatric Diabetes
https://www.readbyqxmd.com/read/20382060/uncovering-microdeletions-in-patients-with-severe-glut-1-deficiency-syndrome-using-snp-oligonucleotide-microarray-analysis
#12
Brynn Levy, Dong Wang, Paivi M Ullner, Kristin Engelstad, Hong Yang, Odelia Nahum, Wendy K Chung, Darryl C De Vivo
Glut-1 facilitates the diffusion of glucose across the blood-brain barrier and is responsible for glucose entry into the brain. Impaired glucose transport across the blood-brain barrier results in Glut-1 deficiency syndrome (Glut-1 DS, OMIM 606777), characterized in its most severe form by infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and hypoglycorrhachia. Approximately 93% of patients with Glut-1 DS have identifiable mutations by sequence analysis in SLC2A1 which localizes to chromosome 1p34...
June 2010: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/19901175/childhood-chorea-with-cerebral-hypotrophy-a-treatable-glut1-energy-failure-syndrome
#13
Belén Pérez-Dueñas, Catherina Prior, Qian Ma, Emilio Fernández-Alvarez, Xavier Setoain, Rafael Artuch, Juan M Pascual
OBJECTIVE: To expand the spectrum of glucose transporter type 1 deficiency syndromes with a novel clinical and radiological phenotype not associated with microcephaly. DESIGN: Case report. SETTING: Two academic medical centers. Patient A 7-year-old patient followed up for 4 years. RESULTS: The patient exhibited a predominant syndrome of chorea and mental retardation associated with a combination of paroxysmal ataxia, dysarthria, dystonia and aggravated intellectual disability induced by fasting or exertion...
November 2009: Archives of Neurology
https://www.readbyqxmd.com/read/19630075/glut1-gene-mutations-cause-sporadic-paroxysmal-exercise-induced-dyskinesias
#14
Susanne A Schneider, Coro Paisan-Ruiz, Ines Garcia-Gorostiaga, Niall P Quinn, Yvonne G Weber, Holger Lerche, John Hardy, Kailash P Bhatia
Paroxysmal exercise-induced dyskinesias (PED) are involuntary intermittent movements triggered by prolonged physical exertion. Autosomal dominant inheritance may occur. Recently, mutations in the glucose transporter 1 (GLUT1) gene (chr. 1p35-p31.3) have been identified as a cause in some patients with autosomal dominant PED. Mutations in this gene have previously been associated with the GLUT1 deficiency syndrome. We performed mutational analysis in 10 patients with apparently sporadic PED. We identified two novel GLUT1 mutations, at least one likely to be de-novo, in two of our patients...
August 15, 2009: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/19591936/murine-glut-1-transporter-haploinsufficiency-postnatal-deceleration-of-brain-weight-and-reactive-astrocytosis
#15
Paivi M Ullner, Alessia Di Nardo, James E Goldman, Scott Schobel, Hong Yang, Kristin Engelstad, Dong Wang, Mustafa Sahin, Darryl C De Vivo
Glucose transporter type 1 (Glut-1) facilitates glucose flux across the blood-brain-barrier. In humans, Glut-1 deficiency causes acquired microcephaly, seizures and ataxia, which are recapitulated in our Glut-1 haploinsufficient mouse model. Postnatal brain weight deceleration and development of reactive astrogliosis were significant by P21 in Glut-1(+/-) mice. The brain weight differences remained constant after P21 whereas the reactive astrocytosis continued to increase and peaked at P90. Brain immunoblots showed increased phospho-mTOR and decreased phospho-GSK3-beta by P14...
October 2009: Neurobiology of Disease
https://www.readbyqxmd.com/read/18577546/paroxysmal-exercise-induced-dyskinesia-and-epilepsy-is-due-to-mutations-in-slc2a1-encoding-the-glucose-transporter-glut1
#16
Arvid Suls, Peter Dedeken, Karolien Goffin, Hilde Van Esch, Patrick Dupont, David Cassiman, Judith Kempfle, Thomas V Wuttke, Yvonne Weber, Holger Lerche, Zaid Afawi, Wim Vandenberghe, Amos D Korczyn, Samuel F Berkovic, Dana Ekstein, Sara Kivity, Philippe Ryvlin, Lieve R F Claes, Liesbet Deprez, Snezana Maljevic, Alberto Vargas, Tine Van Dyck, Dirk Goossens, Jurgen Del-Favero, Koen Van Laere, Peter De Jonghe, Wim Van Paesschen
Paroxysmal exercise-induced dyskinesia (PED) can occur in isolation or in association with epilepsy, but the genetic causes and pathophysiological mechanisms are still poorly understood. We performed a clinical evaluation and genetic analysis in a five-generation family with co-occurrence of PED and epilepsy (n = 39), suggesting that this combination represents a clinical entity. Based on a whole genome linkage analysis we screened SLC2A1, encoding the glucose transporter of the blood-brain-barrier, GLUT1 and identified heterozygous missense and frameshift mutations segregating in this and three other nuclear families with a similar phenotype...
July 2008: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/17941718/hypoinsulinemia-regulates-amphetamine-induced-reverse-transport-of-dopamine
#17
Jason M Williams, W Anthony Owens, Gregory H Turner, Christine Saunders, Concetta Dipace, Randy D Blakely, Charles P France, John C Gore, Lynette C Daws, Malcolm J Avison, Aurelio Galli
The behavioral effects of psychomotor stimulants such as amphetamine (AMPH) arise from their ability to elicit increases in extracellular dopamine (DA). These AMPH-induced increases are achieved by DA transporter (DAT)-mediated transmitter efflux. Recently, we have shown that AMPH self-administration is reduced in rats that have been depleted of insulin with the diabetogenic agent streptozotocin (STZ). In vitro studies suggest that hypoinsulinemia may regulate the actions of AMPH by inhibiting the insulin downstream effectors phosphotidylinositol 3-kinase (PI3K) and protein kinase B (PKB, or Akt), which we have previously shown are able to fine-tune DAT cell-surface expression...
October 16, 2007: PLoS Biology
https://www.readbyqxmd.com/read/17675029/glut1-deficiency-with-delayed-myelination-responding-to-ketogenic-diet
#18
Jörg Klepper, Volkher Engelbrecht, Hans Scheffer, Marjo S van der Knaap, Andreas Fiedler
Monitoring effects of a ketogenic diet in GLUT1 deficiency syndrome without seizures is difficult. Neuroimaging is considered uninformative. We report the case of a boy with neurodevelopmental delay, severe ataxia, an E54X-mutation in the SLC2A1 gene (previously GLUT1), and neuroimaging abnormalities indicative of delayed myelination. Six months on a ketogenic diet resulted in an improved high subcortical white matter signal on T2-weighted images and a reduced N-acetylaspartate/creatine ratio. We conclude that delayed subcortical myelination may occur in GLUT1 deficiency syndrome as a nonspecific finding reflecting developmental delay...
August 2007: Pediatric Neurology
https://www.readbyqxmd.com/read/17657332/-glucose-transponer-type-1-deficiency-s%C3%A3-ndrome-glut-1-sd-treated-with-ketogenic-diet-report-of-one-case
#19
Verónica E Cornejo, Juan Francisco A Cabello, Marta C Colombo, Erna B Raimann
The glucose transporter type 1 deficiency syndrome (GLUT-1 SD) (OMIM 606777) is an inborn error of metabolism of brain glucose transport. The characteristic clinical manifestations are seizures, hypotonia, developmental delay, microcephaly and hypoglycorrhachia. We report a girl with normal weight and height at birth. At 6 weeks of age she started with convulsions reaching up to 20 myoclonic seizures a day. She was treated with valproate, phenobarbital and carbamazepine without response. Blood analysis including aminoacids and acylcarnitines were all normal...
May 2007: Revista Médica de Chile
https://www.readbyqxmd.com/read/17489814/a-novel-microdeletion-in-1-p34-2p34-3-involving-the-slc2a1-glut1-gene-and-severe-delayed-development
#20
Sascha Vermeer, David A Koolen, Gepke Visser, Hein J L Brackel, Ineke van der Burgt, Nicole de Leeuw, Michèl A A P Willemsen, Erik A Sistermans, Rolph Pfundt, Bert B A de Vries
A de novo 4.1-megabase microdeletion of chromosome 1p34.2p34.3 has been identified by array-based comparative genomic hybridization in a young male with severely delayed development, microcephaly, pronounced hypotonia, and facial dysmorphism. The deleted region encompasses 48 genes, among them the glucose transporter 1 (SLC2A1 or GLUT1) gene. The deletion of the GLUT1 gene was in line with the abnormal ratio of cerebrospinal fluid (CSF) glucose to blood glucose, indicative of GLUT1 deficiency syndrome (MIM #606777)...
May 2007: Developmental Medicine and Child Neurology
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