(J. Klepper, Aschaffenburg; updated 01.2007)
The first patients with GLUT1 deficiency syndrome were described in 1991. Ever since, great progress has been made in understanding this novel entity; but yet, many open questions remain:
- despite increasing numbers of patients identified no classification on clinical or genetic grounds has so far been possible due to the complexity of the disease. Transient GLUT1 deficiency syndrome and patients without seizures have been described; the manifestation of this disease in adults is not yet defined.
- Long-term effects and the time-point when to discontinue the ketogenic diet are currently unclear.
- Recently a GLUT1-deficient mouse has been generated. Research in this field will help to understand the disease-mechanisms and enable therapeutical trials.
- Oral ketones could possibly be administered in addition to the ketogenic diet, decreasing the fat to non-fat ratio and making the diet more palatable.
We are only beginning to understand and treat this complex novel disease.