Question of the Week

Question :
Posted On : 16 Dec 2018
GLUT receptor mutation is known to produce movement disorders whioch responds to ketogenic diet. More than 50 percent of refractory epilepsies irrespective of the type of seizure improves with ketogenic diet. Does it mean that refractory epilepsies has GLUT receptor mutation or other defects in Glucose metabolism as the underlying etiology_?
Expert Answer :
GLUT transporter deficiency is a disorder with rapidly expanding spectrum. Movement disorder, generalized epilepsy and absence epilepsy are reported among other manifestations. Exact mechanism of action of keto diet is speculative. Refractory epilepsies that are generalized and non-lesional are very likely channelopathies, including SCLA2 { GLUT transporter deficieny}. If CSF Glucose is low, diagnosis is easy but otherwise genetic testing may be helpful. Other types of focal resistant epilepsies are unlikely to have an underlying channelopathy but may improve with the diet atleast transiently.
Answer Discussion :
naema ibrahim hamouda
may be
2 years ago
Kaushambi Basu
Might be
2 years ago
Prathibha Kariyawasam
Yes, must be an association
2 years ago
George M
there is changes( mutation) in the gult receptor
2 years ago
Hind Hammad
Yes there is mutations in gult receptor
2 years ago

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