#slc2a1

[xunyi1984]

Low CSF glucose (hypoglycorrhachia) often triggers immediate concern for meningitis—especially in infants. And in emergencies, starting empiric antibiotics can be the safest first step. But what if the labs evolve in the opposite direction: CRP falls, CSF cell counts normalize, cultures and mNGS are negative—yet CSF glucose stays low?

This video explains when that pattern should raise suspicion for GLUT1 Deficiency Syndrome (GLUT1DS), how CSF-to-blood glucose ratio fits into interpretation, and why symptoms can look like seizures, movement disorders, developmental delay, or even autism-like features.

#GLUT1Deficiency #GLUT1DS #SLC2A1 #LowCSFGlucose #Hypoglycorrhachia #LumbarPuncture #CSFGlucose #MeningitisDifferential #BacterialMeningitis #InfantSeizures #NeonatalFever #PediatricNeurology #MetabolicDisorders #InbornErrorsOfMetabolism #IEM #GeneticTesting #CNVAnalysis #mNGS #EEG #EpilepsyEducation #KetogenicDiet #KetogenicDietTherapy #ModifiedAtkinsDiet #BrainEnergy #BloodBrainBarrier #GlucoseTransporter #Neurodevelopment #DevelopmentalDelay #AutismSpectrum #AutismAndEpilepsy #MovementDisorder #Dystonia #Ataxia #FastingTriggers #ParoxysmalEvents #PediatricInfectiousDisease #CSFRatio #MedicalCaseStudy #RareDiseaseAwareness #DiagnosticDelay

[ketomics]

Results

The study illustrates the genetic and clinical heterogeneity of GLUT-1 DS. Analysis of the SLC2A1 gene disclosed a variety of mutation types. The time between onset of symptoms and diagnosis was more than 11 years on average. The outcome in those with early diagnosis and intervention was surprisingly good. All but one patient with the classic phenotype became seizure free after treatment with the classic ketogenic or modified Atkins diet. Acetazolamide was effective in one patient with paroxysmal exercise-induced dyskinesia. A point prevalence of GLUT-1 DS in Norway was estimated as 2.6 per 1 000 000 inhabitants.

Interpretation

Although the long-term prognosis in patients with GLUT-1 DS partly depends on the underlying genetics, our study supports the assumption that early initiation of treatment with a ketogenic diet may positively affect the outcome.