What question did this study set out to answer?

To review the clinical, biochemical, and genetic features of GLUT1 deficiency syndrome and evaluate current therapeutic strategies.

August 20, 2007Developmental Medicine & Child NeurologyOpen Access

GLUT1 deficiency syndrome – 2007 update

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Authors

JKJoerg KlepperKlinikum Aschaffenburg BLB. LeiendeckerEssen University Hospital

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Implication

Clinical review reports phenotypic variability and metabolic hallmarks in GLUT1 deficiency syndrome, highlighting early ketogenic diet therapy as effective for refractory seizure control.

Key Points

To review the clinical, biochemical, and genetic features of GLUT1 deficiency syndrome and evaluate current therapeutic strategies.
Synthesized clinical, biochemical, and molecular genetic data from 84 published cases.
Evaluated diagnostic findings including cerebrospinal fluid (CSF) glucose, electroencephalography (EEG), and neuroimaging, alongside outcomes from ketogenic diet therapy.
Hypoglycorrhachia is the hallmark diagnostic finding, presenting with a mean CSF glucose of 1.7 (SD 0.3) mmol/L alongside normoglycemia and normal CSF lactate.
Most patients exhibit heterozygous de novo mutations in GLUT1, resulting in drug-resistant early-onset epilepsy, developmental delay, and complex movement disorders.
Ketogenic diet therapy provides effective seizure control upon the induction of ketosis, though its beneficial effect on long-term neurodevelopment is less pronounced.

Cite This Study

Klepper et al. (2007) studied this question.

synapsesocial.com/papers/6a9ed5496e3e9028e6be727d https://doi.org/10.1111/j.1469-8749.2007.00707.x

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Implication

Clinical review reports phenotypic variability and metabolic hallmarks in GLUT1 deficiency syndrome, highlighting early ketogenic diet therapy as effective for refractory seizure control.

GLUT1 deficiency syndrome – 2007 update

Discussion

Member takes

Implication

Key Points

Cite This Study

GLUT1 deficiency syndrome – 2007 update

Discussion

Member takes

Implication

Key Points

Cite This Study

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