Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Annals of clinical and translational neurology"
DOI: 10.1002/acn3.51462
Abstract: Glut1 deficiency syndrome is caused by SLC2A1 mutations on chromosome 1p34.2 that impairs glucose transport across the blood-brain barrier resulting in hypoglycorrhachia and decreased fuel for brain metabolism. Neuroglycopenia causes a drug-resistant metabolic epilepsy due… read more here.
Keywords: deficiency syndrome; deficiency; treatment glut1; glut1 deficiency ... See more keywords
Usefulness of diagnostic tools in a GLUT1 deficiency syndrome patient with 2 inherited mutations
Sign Up to like & getrecommendations! Published in 2019 at "Brain and Development"
DOI: 10.1016/j.braindev.2019.05.008
Abstract: In some patients with GLUT1 deficiency syndrome (GLUT1-DS), the diagnosis can be difficult to reach. We report a child with 2 inherited mutations suggesting an autosomal recessive transmission of SLC2A1 mutations. METHODS The child and… read more here.
Keywords: deficiency syndrome; inherited mutations; glucose uptake; glut1 deficiency ... See more keywords
G404(P) Detection rate of slc2a1 gene variants causing glucose transporter 1 deffiency syndrome in patients with childhood onset epilepsy
Sign Up to like & getrecommendations! Published in 2017 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2017-313087.397
Abstract: Background SLC2A1 gene is the gene gives instruction for production of a protein called Glucose transporter 1( GLUT1). Alterations (variants) on this gene affect the production of enough amounts and reduce function of GLUT1 protein.… read more here.
Keywords: slc2a1 gene; glut1 deficiency; glucose transporter; gene ... See more keywords
GLUT1 deficiency
Sign Up to like & getrecommendations! Published in 2020 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000472
Abstract: Most patients with glucose transporter type 1 (GLUT1) deficiency syndrome (G1D) experience anticonvulsant-refractory epilepsy and abnormal cognitive and motor development.1 Ninety percent of patients with G1D harbor a causative loss-of-function mutation in the SLC2A1 gene;… read more here.
Keywords: neurology; deficiency; glut1 deficiency;
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet
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DOI: 10.1371/journal.pone.0184022
Abstract: Global metabolomic profiling offers novel opportunities for the discovery of biomarkers and for the elucidation of pathogenic mechanisms that might lead to the development of novel therapies. GLUT1 deficiency syndrome (GLUT1-DS) is an inborn error… read more here.
Keywords: glut1 deficiency; treatment; potential biomarkers; glut1 ... See more keywords
Phenotypic variability of GLUT1 deficiency: When is necessary to suspect?
Sign Up to like & getrecommendations! Published in 2020 at "Revista chilena de pediatria"
DOI: 10.32641/rchped.v91i2.1185
Abstract: INTRODUCTION Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS) is caused by the SLC2A1 gene muta tion, which encodes the glucose transporter proteins to the brain Neurological manifestations occur in three main domains: seizures, abnormal movements,… read more here.
Keywords: diagnosis; phenotypic variability; variability glut1; deficiency ... See more keywords
GLUT1 Deficiency Syndrome—Early Treatment Maintains Cognitive Development? (Literature Review and Case Report)
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12091379
Abstract: Glucose transporter type 1 (GLUT1) is the most important energy carrier of the brain across the blood–brain barrier, and a genetic defect of GLUT1 is known as GLUT1 deficiency syndrome (GLUT1DS). It is characterized by… read more here.
Keywords: glut1 deficiency; deficiency syndrome; report; cognitive development ... See more keywords