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In their leading article on Treatable Neonatal Epilepsy, Surtees and
Wolf list the syndrome of glucose transporter deficiency Type 1 (GLUT 1)
as the second entry on their list of metabolic causes of early onset
epilepsy(1). I think that this could mislead many practitioners into
thinking that seizures affecting infants in the first few weeks of life
could be due to this disorder.
I am no...
I am not aware of any cases reported in which seizures occurred so
early in life. Leary et al described 20 affected patients, mean age of
seizure onset was 5 months, with a range of 1-18 months (2). Klepper &
Voit emphasise that in GLUT-1 deficiency syndrome "the majority of
patients, delivery and the neonatal period are normal".(3).
The preferred treatment of GLUT 1 deficiency syndrome is ketogenic
diet and I wonder whether this is precisely the reason why neurological
abnormalities do not occur in the neonatal period, even when the metabolic
abnormality is present. The neonatal brain appears adapted to utilizing
ketone bodies as an energy source in times of glucose scarcity, also the
expression of GLUT 1 can be upregulated at times of stress (4), both
reasons why seizures may not occur in the neonatal period in patients with
GLUT 1 deficiency disorder.
GLUT 1 deficiency syndrome is an important treatable cause of
recurrent seizures and neurological abnormalities, and is diagnosed
initially by the finding of hypoglycorrhachia, but not in the newborn.
1) Surtees R, Wolf N Treatable neonatal epilepsy Arch Dis Child
2007; 92: 659-661.
2) Leary LD, Wang D, Nordli D R, Engelstad K, De Vivo D Seizure
characterization and electroencephalographic features in Glut-1 deficiency
syndrome Epliepsia 2003; 44(5): 701-7.
3) Klepper J, Voit T. Facilitated glucose transporter protein type 1
(GLUT1) deficiency syndrome: impaired glucose transport into brain-a
review Eur J Pediatr 2002; 161: 295-304.
4) McGowan KM, Long SD, Pekala PH Glucose transporter gene expression:
regulation of transcription and mRNA stability Pharmacol Ther 1995; 66: