Glucose transporter type 1 deficiency: a study of two cases with video-EEG.
Glucose transporter type 1 (GLUT1) deficiency is an inborn error of glucose transport. Clinical manifestations are presumed secondary to reduced glucose transport across the blood brain barrier, and include seizures, abnormal tone, developmental delay and hypoglycorrhachia. A high index of suspicion is important as GLUT1 deficiency is a potentially treatable cause of mental retardation. We studied two affected children by continuous video-EEG in order to better understand the cause of the clinical manifestations and improvement on a ketogenic diet. The EEG was characterized by generalized paroxysmal 2-2.5 Hz spike-wave discharges, although normal EEGs were also obtained. Atypical absence seizures were the most prominent clinical seizure. Epileptiform activity and clinical seizures occurred in both children while acutely ketotic and non-ketotic, but were markedly more frequent in one child when non-ketotic. Discharges were not associated with a reduction in substrate for brain metabolism in the blood at that time. Conclusion Atypical absence seizures are common in glucose transporter type 1 deficiency and should alert the clinician to the possibility of this treatable disorder when present in a young child with developmental delay. Our data suggest that the therapeutic mechanism of the ketogenic diet in this disorder is more complicated than simply delivering ketones as an alternative substrate for brain metabolism.
Boles
R G
RG
Medical Genetics, Box 90, Childrens Hospital Los Angeles, 4650 Sunset Blvd., Los Angeles, California 90027, USA. rboles@chla.usc.edu
Seashore
M R
MR
Mitchell
W G
WG
Kollros
P R
PR
Mofidi
S
S
Novotny
E J
EJ
D002648:Child; D004041:Dietary Fats / Q000008:administration & dosage; D004569:Electroencephalography / Q000379:methods; D005947:Glucose / Q000378:metabolism; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D007662:Ketosis; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000178:diet therapy; D009004:Monosaccharide Transport Proteins / Q000172:deficiency*; D012640:Seizures / Q000175:diagnosis / Q000209:etiology / Q000628:therapy
D004041:Dietary Fats; D009004:Monosaccharide Transport Proteins; D005947:Glucose