Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12554
Abstract: We used next‐generation metabolic screening to identify new biomarkers for improved diagnosis and pathophysiological understanding of glucose transporter type 1 deficiency syndrome (GLUT1DS), comparing metabolic cerebrospinal fluid (CSF) profiles from 12 patients to those of… read more here.
Keywords: deficiency syndrome; xylose; glucose transporter; transporter type ... See more keywords
Glucose transporter type 1 deficiency syndrome associated with autoantibodies to glutamate receptors
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DOI: 10.1016/j.braindev.2020.05.010
Abstract: BACKGROUND The clinical spectrum of glucose transporter type 1 deficiency syndrome (GLUT1DS) has broadened, with increasing recognition of a milder phenotype. Antibodies targeting the subunits of glutamate receptors (GluRs), including GluN1, GluN2B, and GluD2, have… read more here.
Keywords: glucose transporter; deficiency syndrome; glutamate receptors; type deficiency ... See more keywords
Sleep Disorder: An Overlooked Manifestation of Glucose Transporter Type-1 Deficiency Syndrome.
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DOI: 10.1055/s-0041-1736179
Abstract: Glucose transporter type-1 deficiency syndrome (Glut1 DS) is a rare disorder with various manifestations. Early diagnosis is crucial because treatment with the ketogenic diet can lead to clinical improvement. Here, we report the cases of… read more here.
Keywords: glucose transporter; disorder; sleep disorder; deficiency syndrome ... See more keywords
Glucose transporter type 1 deficiency syndrome: clinical aspects, diagnosis, and treatment.
Sign Up to like & getrecommendations! Published in 2022 at "Archivos argentinos de pediatria"
DOI: 10.5546/aap.2022-02677.eng
Abstract: Glucose transporter type 1 deficiency with a typical onset is a genetic disorder associated with the SLC2A1 gene. Usually appears during the first years of life with severe developmental delay, drugresistant epilepsy, and movement disorders.… read more here.
Keywords: glucose transporter; deficiency syndrome; type deficiency; transporter type ... See more keywords