" /> Neurodegeneration due to cerebral folate transport deficiency - CISMeF





Preferred Label : Neurodegeneration due to cerebral folate transport deficiency;

Symbol : NCFTD;

Type : Phenotype, molecular basis known;

Description : This is an autosomal recessive disorder resulting from brain-specific folate deficiency early in life. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function (Steinfeld et al,. 2009).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the adult folate receptor 1 gene (FOLR1, 136430.0001);

Laboratory abnormalities : Decreased CSF methyltetrahydrofolate (MTHF);

Prefixed ID : #613068;

Details


You can consult :


Nous contacter.
03/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.