cerebral folate deficiency
Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system.
MONDO:0100033
metabolic epilepsy
excluded_subClassOf
MONDO:0005528
inborn vitamin metabolic disorder
is_a