Also known as: Neurodegeneration due to cerebral folate transport deficiency; NCFTD
OMIM#613068 https://omim.org/entry/613068
1. The Disease:
NCFTD is an autosomal recessive disorder resulting from brain-specific folate deficiency early in life. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function.
2. The symptoms:
Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Lack of early signs or symptoms does not exclude the diagnosis.
3. Actions to take in case of early diagnosis:
· NCFTD is a lifelong disease requiring lifetime management and regular follow-up with a Paediatric Neurology Center Management is provided by multidisciplinary team.
· Therapy with oral folinic acid seems to reverse most of the symptoms.
· Genetic counselling is highly recommended for family planning and evaluation of at-risk family members such as siblings.