Neurodegeneration due to cerebral folate transport deficiency - CISMeF
Neurodegeneration due to cerebral folate transport deficiencyOMIM Phenotype
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);