Widening the phenotypic spectrum – Non epileptic presentation of folate transporter deficiency

ConclusionFolate transporter deficiency has a wide range of presenting symptoms. Presentation with slowly progressive atypical symptoms, stable white matter changes in brain MRI that does not fit a specific diagnosis, should raise a high suspicion of FOLR1 mutation, even in absence of seizures. Since folate transporter deficiency is a treatable neurodegenerative disorder, early diagnosis and supplementation with folinic acid is vital.
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research