Do young adolescents with periodic ataxia due to GLUT-1 Deficiency profit from introduction of a modified Atkins Diet?

Aims: Diagnosis of GLUT-1 deficiency in patients with periodic ataxia is often delayed. Classical ketogenic diet is recommended but difficult to comply to whereas the modified Atkins diet is far easier to manage for patients. There are no data regarding the benefit of a modified Atkins diet in patients with GLUT-1 deficiency past puberty. It is unknown whether improvement can be assessed with objective methods that are routinely used for example M-ABC or neuropsychological testing.

Methods: In 2011, we treated 2 moderately retarded patients with modified Atkins diet for periodic ataxia (17 and 19 years) due to GLUT-1 deficiency. M-ABC test was videotaped before introduction of the diet, 2 weeks later (after reaching ketosis) and after 6 months on diet. Neuropsychological testing was done before diet and 6 months later. Frequency of ataxic episodes and serum ß-hydroxybutyrat was recorded over the whole time.

Results: In both patients, no or infrequent very mild ataxic episodes were seen after reaching ketosis. Both patients considered diet very effective, speech and fatigue improved and they were able to participate in more social activities. However, we were not able to measure this improvement with M-ABC or neuropsychological testing.

Conclusion: Older patients with periodic ataxia due to GLUT-1 deficiency profit from modified Atkins diet. Results seem to be similar to those seen in classical ketogenic diet (Veggiotti et al 2010) However, we need to find better methods to objectify the improvement described by the patients.

GLUT-1 deficiency - Atkins diet - periodic ataxia