Subtle, but significant metabolic abnormalities were found for subjects with TSC compared with healthy controls, both in tubers and in normal-appearing brain regions. The variation of metabolite levels as a function of age also differed between TSC and controls. These findings may provide information on the underlying pathophysiology of TSC, and future work is needed to investigate the relationships of these findings to neurologic symptoms, including seizures and cognitive impairment.
Senapati et al. (Thu,) studied this question.